Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.T2717insFs
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ALMS1

NM_015120.4:p.T2717insFs

Associated Papers

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.

Kausthubham N et al.

Human Mutation, 2021

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."