Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Journal Information
Full Title: Hum Mutat
Abbreviation: Hum Mutat
Country: Unknown
Publisher: Unknown
Language: N/A
Publication Details
Subject Category: Genetics, Medical
Available in Europe PMC: Yes
Available in PMC: Yes
PDF Available: No
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"these scripts are available at https://github com/jcomand/variantcounting ."
"DISCLOSURE JC serves as a consultant on a Blue Cross Blue Shield advisory board for gene therapy policy. JC is/was a consultant for AGTC, Beam Therapeutics, RBS, Editas Medicine, Gensight, and Sanofi, not directly related to this study. EP receives research funding from Casebia Therapeutics, not directly related to this study. JC and EP are also investigators for gene therapy clinical trials, not directly related to this study."
"We are grateful for funding from NEI K12 EY016335‐10 (JC), the Foundation Fighting Blindness Enhanced Career Development Award (JC), the Research for Prevention of Blindness Career Development Award (JC), the Massachusetts Lions Foundation/Lions Eye Research Foundation, and NEI/NIH P30 EY014104."
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Last Updated: Aug 05, 2025