Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.R681*
Back to variants list

ALMS1

NM_015120.4:p.R681*

Associated Papers

Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.

Huang Y et al.

Orphanet Journal of Rare Diseases, 2025

Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene.

Peng H et al.

Diabetology & Metabolic Syndrome, 2025

Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients.

Zhang Q et al.

Frontiers in Genetics, 2022

Liver Fibrosis and Steatosis in Alström Syndrome: A Genetic Model for Metabolic Syndrome.

Bettini S et al.

Diagnostics (basel, Switzerland), 2021

Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome.

Dassie F et al.

American Journal of Medical Genetics. Part A, 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."