Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.V209fs
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PRPH2

NM_000322.5:p.V209fs

Associated Papers

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.

Peeters MHCA et al.

Human Mutation, 2021

34411390 (PubMed )
Supplement: HUMU-42-1521-s005.xlsx › Protein_truncating_variants
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