Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance-Reference-Cited by-同舟云学术

Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance

Published:2020-10-29 Issue:11 Volume:11 Page:1274
ISSN:2073-4425
Container-title:Genes
language:en
Short-container-title:Genes

Author:

Ellingford Jamie M.,Hufnagel Robert B.,Arno Gavin

Abstract

Inherited retinal diseases (IRDs) are a diverse and variable group of rare human disorders [...]

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

Link

https://www.mdpi.com/2073-4425/11/11/1274/pdf

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4. In SilicoFunctional Meta-Analysis of 5,962ABCA4Variants in 3,928 Retinal Dystrophy Cases

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