Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.L4012fs
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ALMS1

NM_015120.4:p.L4012fs

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

Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients.

Zhang Q et al.

Frontiers in Genetics, 2022

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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."