Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.

Publication Year: 2019

DOI:
10.1002/humu.23762

PMCID:
PMC7027811

PMID:
30977563

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

Transparency Score
3/6
0.0% Transparent
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Evidence found in paper:

"these scripts are available at https://github com/jcomand/variantcounting ."

Evidence found in paper:

"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."

Evidence found in paper:

"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