Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.R3702*
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ALMS1

NM_001378454.1:p.R3702*

Associated Papers

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

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Astuti D et al.

Human Mutation, 2017

Genetic evaluation of patients with Alström syndrome in the Polish population.

Zmyslowska A et al.

Clinical Genetics, 2016

Novel ALMS1 mutations in Chinese patients with Alström syndrome.

Liang X et al.

Molecular Vision, 2013

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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."