Varaico: Literature-Extracted Genetic Variants

Gene:TRPM1
Variant:p.L99P
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TRPM1

NM_002420.6:p.L99P

Associated Papers

Unique pore architecture underlies constitutive gating of human retinal TRPM1.

Sharma M et al.

Biorxiv : the Preprint Server for Biology, 2026

Clinical and genetic findings in TRPM1-related congenital stationary night blindness.

Iosifidis C et al.

Acta Ophthalmologica, 2022

High-frequency actionable pathogenic exome variants in an average-risk cohort.

Rego S et al.

Cold Spring Harbor Molecular Case Studies, 2018

30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_1.xlsx › Sheet1

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.

Zeitz C et al.

Progress in Retinal and Eye Research, 2015

Transient receptor potential genes and human inherited disease.

Everett KV

Advances in Experimental Medicine and Biology, 2011

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.

van Genderen MM et al.

American Journal of Human Genetics, 2009

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

Audo I et al.

American Journal of Human Genetics, 2009

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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."