Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.W179L
Back to variants list

PRPH2

NM_000322.5:p.W179L

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

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.

Martin-Merida I et al.

Investigative Ophthalmology & Visual Science, 2018

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.

Fernandez-San Jose P et al.

Investigative Ophthalmology & Visual Science, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."