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“The grant will fund the computational analysis of SYNGAP1 missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.”
Types of mutations
https://youtu.be/xYOK-yzUWSI
SYNGAP1 on Alphafold
https://alphafold.ebi.ac.uk/entry/F6SEU4
Dr. Underbake on Disordered/Unstructured Proteins
https://youtu.be/Q11q_m_tV88?si=Ix9Gr7RSiCdFCgqH&t=830
Common Missense
https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344
Young c.980T>C p.Leu327Pro
http://clinvar.com/ SYNGAP1 c.980C>T
2015 UK https://pubmed.ncbi.nlm.nih.gov/26079862/
2018 SK https://pubmed.ncbi.nlm.nih.gov/29390993/
SRF iPSCs
https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments
Dr. Courtney Grant
https://www.eurekalert.org/news-releases/957967
Dr. Courtney Webinar https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations
Dr. Haas Webinar
https://www.syngapresearchfund.org/webinars/functional-assessment-of-missense-variants-of-syngap1-kurt-haas
EpiMVP
https://epimvp.med.umich.edu/
https://leonandfriends.org/ started this work
https://www.syngapresearchfund.org/leon
#S10e73 https://www.youtube.com/watch?v=FJgXP4l0cuk
Register for the Conference!
35 Days until the Conference - Sign up by Halloween.
https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-hosted-by-syngap-research-fund-srf
#SyngapConf Conference Agenda Announced!
#S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I
Press release https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
5
8383 ratings
“The grant will fund the computational analysis of SYNGAP1 missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.”
Types of mutations
https://youtu.be/xYOK-yzUWSI
SYNGAP1 on Alphafold
https://alphafold.ebi.ac.uk/entry/F6SEU4
Dr. Underbake on Disordered/Unstructured Proteins
https://youtu.be/Q11q_m_tV88?si=Ix9Gr7RSiCdFCgqH&t=830
Common Missense
https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344
Young c.980T>C p.Leu327Pro
http://clinvar.com/ SYNGAP1 c.980C>T
2015 UK https://pubmed.ncbi.nlm.nih.gov/26079862/
2018 SK https://pubmed.ncbi.nlm.nih.gov/29390993/
SRF iPSCs
https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments
Dr. Courtney Grant
https://www.eurekalert.org/news-releases/957967
Dr. Courtney Webinar https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations
Dr. Haas Webinar
https://www.syngapresearchfund.org/webinars/functional-assessment-of-missense-variants-of-syngap1-kurt-haas
EpiMVP
https://epimvp.med.umich.edu/
https://leonandfriends.org/ started this work
https://www.syngapresearchfund.org/leon
#S10e73 https://www.youtube.com/watch?v=FJgXP4l0cuk
Register for the Conference!
35 Days until the Conference - Sign up by Halloween.
https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-hosted-by-syngap-research-fund-srf
#SyngapConf Conference Agenda Announced!
#S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I
Press release https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
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