Associated Papers
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S8_USH2A_variants
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.
Xu Y et al.
Human Genetics, 2014
[A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa].
Cui Y et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2003
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