Characterizing variants of unknown significance in rhodopsin: A functional genomics approach-Reference-Cited by-同舟云学术

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

Published:2019-06-22 Issue:8 Volume:40 Page:1127-1144
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Wan Aliete¹,Place Emily¹,Pierce Eric A.¹,Comander Jason¹^ORCID

Affiliation:

1. Department of Ophthalmology, Ocular Genomics Institute Berman‐Gund Laboratory for the Study of Retinal Degenerations, Massachusetts Eye and Ear, Harvard Medical School Boston Massachusetts

Funder

Research to Prevent Blindness

Massachusetts Lions Eye Research Fund

National Eye Institute

Foundation Fighting Blindness

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23762

Reference76 articles.

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2. Registered Blindness and Low Vision in Kuwait

3. The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy

4. Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data

5. A small chaperone improves folding and routing of rhodopsin mutants linked to inherited blindness;Behnen P.;Science,2018

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