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

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The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome.

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ژورنال

عنوان ژورنال: Genes

سال: 2020

ISSN: 2073-4425

DOI: 10.3390/genes11111274