Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.L940*
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ALMS1

NM_001378454.1:p.L940*

Associated Papers

Ophthalmic findings in Alström syndrome.

Zhou Y et al.

Ophthalmic Genetics, 2024

Alstrom syndrome with classical findings: a rare case report of monogenic ciliopathy co-occurrence in twins.

Ghimire S et al.

Annals of Medicine and Surgery (2012), 2024

Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients.

Zhang Q et al.

Frontiers in Genetics, 2022

Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.

Chen JH et al.

Molecular Genetics & Genomic Medicine, 2017

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."