Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.Q2759*
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ALMS1

NM_015120.4:p.Q2759*

Associated Papers

Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.

Abosabie SAS et al.

Molecular Genetics & Genomic Medicine, 2024

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example.

Aldahmesh MA et al.

American Journal of Medical Genetics. Part A, 2009

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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."