Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.P216A
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PRPH2

NM_000322.5:p.P216A

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

In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.

Becirovic E et al.

Plos Genetics, 2016

26796962 (PubMed )
Supplement: pgen.1005811.s007.xlsx › Tabelle1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."