Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.Q4009delFs
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ALMS1

NM_001378454.1:p.Q4009delFs

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

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.

Rethanavelu K et al.

American Journal of Medical Genetics. Part A, 2020

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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."