Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.E597delFs
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ALMS1

NM_015120.4:p.E597delFs

Associated Papers

Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.

Kim Y et al.

Circulation. Genomic and Precision Medicine, 2023

37767697 (PubMed )
Supplement: hcg-16-452-s001.pdf

Familial Alström syndrome: a rare cause of bilateral progressive hearing loss.

Bahmad F et al.

Brazilian Journal of Otorhinolaryngology, 2014

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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."