Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.Y1582*
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ALMS1

NM_015120.4:p.Y1582*

Associated Papers

Neovascularization of the optic disc and peripheral retinal ischemia in a child with a novel variant in ALMS1 (Alström syndrome).

Chang MY et al.

American Journal of Ophthalmology Case Reports, 2022

Alström Syndrome: Mutation Spectrum of ALMS1.

Marshall JD et al.

Human Mutation, 2015

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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."