Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.Q1251delFs
Back to variants list

ALMS1

NM_001378454.1:p.Q1251delFs

Associated Papers

Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India.

Viswarubhiny S et al.

Eye and Vision (london, England), 2021

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."