Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.V3597delFs
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ALMS1

NM_015120.4:p.V3597delFs

Associated Papers

Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients.

Bea-Mascato B et al.

Genes, 2021

Alström Syndrome: Mutation Spectrum of ALMS1.

Marshall JD et al.

Human Mutation, 2015

Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.

Piñeiro-Gallego T et al.

Molecular Vision, 2012

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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."