Varaico: Literature-Extracted Genetic Variants

Gene:TRPM1
Variant:p.G143Splc
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TRPM1

NM_002420.6:p.G143Splc

Associated Papers

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

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."