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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALMS1

Variant:p.L3682insFs

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ALMS1

NM_001378454.1:p.L3682insFs

hg38:chr2:73572921 C>CT

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

41044667 (PubMed )

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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."