Varaico: Literature-Extracted Genetic Variants

Gene:CACNA2D4
Variant:p.L99P
Back to variants list

CACNA2D4

NM_172364.5:p.L99P

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

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

Audo I et al.

American Journal of Human Genetics, 2009

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."