Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.C213W
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PRPH2

NM_000322.5:p.C213W

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

Treatment and longitudinal follow-up of CNV associated with pattern dystrophy with novel PRPH2 variant.

Xu J et al.

Ophthalmic Genetics, 2021

Stargardt disease masquerades.

Ricca AM et al.

Current Opinion in Ophthalmology, 2021

A Family Affected by Novel C213W Mutation in PRPH2: Long-Term Follow-Up of CNV Secondary to Pattern Dystrophy.

Lee CS et al.

Ophthalmic Surgery, Lasers & Imaging Retina, 2020

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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."