Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.R211delFs
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PRPF31

NM_015629.4:p.R211delFs

Associated Papers

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Zampaglione E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32037395 (PubMed )
Supplement: NIHMS1572593-supplement-Supplementary_Tables.xlsx › Table_S2-solutions
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