Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.K120delFs
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PRPF31

NM_015629.4:p.K120delFs

Associated Papers

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table4.xlsx › Results

Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.

Wheway G et al.

Experimental Eye Research, 2020

Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa.

Yang Y et al.

Ophthalmic Genetics, 2015

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