Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.K980insFs
Back to variants list

ALMS1

NM_001378454.1:p.K980insFs

Associated Papers

Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy.

Hanaki K et al.

Yonago Acta Medica, 2024

A review of Alström syndrome: a rare monogenic ciliopathy.

Choudhury AR et al.

Intractable & Rare Diseases Research, 2021

Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families.

Saadah OI et al.

Frontiers in Pediatrics, 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."