Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.L2798_P2799insFs
Back to variants list

ALMS1

NM_001378454.1:p.L2798_P2799insFs

Associated Papers

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.

Waldman M et al.

Molecular Genetics and Metabolism, 2018

Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.

Han JC et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.

Brofferio A et al.

Molecular Genetics and Metabolism, 2017

Alström syndrome: insights into the pathogenesis of metabolic disorders.

Girard D et al.

Nature Reviews. Endocrinology, 2011

Alstrom syndrome (OMIM 203800): a case report and literature review.

Joy T et al.

Orphanet Journal of Rare Diseases, 2007

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

Marshall JD et al.

Human Mutation, 2007

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."