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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALMS1

Variant:p.L590*

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ALMS1

NM_015120.4:p.L590*

hg38:chr2:73448293 T>A

Associated Papers

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

Bahmad F et al.

Brazilian Journal of Otorhinolaryngology, 2014

24830966 (PubMed )

Alström syndrome: cardiac magnetic resonance findings.

Corbetti F et al.

International Journal of Cardiology, 2013

22498418 (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."