Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.N1580K
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ALMS1

NM_001378454.1:p.N1580K

Associated Papers

Clinical Presentation of a Child With a Novel ALMS1 Variant Associated With Alström Syndrome and Favorable Response to GLP-1 Receptor Agonist Therapy.

Alvarez G et al.

American Journal of Medical Genetics. Part A, 2026

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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."