Varaico: Literature-Extracted Genetic Variants

Gene:UNC119
Variant:p.S200Y
Back to variants list

UNC119

NM_005148.4:p.S200Y

Associated Papers

Features, genetics and their correlation in Jalili syndrome: a systematic review.

Daneshmandpour Y et al.

Journal of Medical Genetics, 2019

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.

Parry DA 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."