Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance.
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ABSTRACT:
SUBMITTER: Ellingford JM
PROVIDER: S-EPMC7692259 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Publications
Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance.
Ellingford Jamie M JM Hufnagel Robert B RB Arno Gavin G
Genes 20201029 11
Inherited retinal diseases (IRDs) are a diverse and variable group of rare human disorders [...]. ...[more]
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