Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.A49V
Back to variants list

GUCY2D

NM_000180.4:p.A49V

Associated Papers

Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.

Wang J et al.

Investigative Ophthalmology & Visual Science, 2022

Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing.

Srikrupa NN et al.

Clinical Genetics, 2018

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."