Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.E3649*
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ALMS1

NM_015120.4:p.E3649*

Associated Papers

Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients.

Zhang Q et al.

Frontiers in Genetics, 2022

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.

Lazar CH et al.

Human Mutation, 2015

Alström Syndrome: Mutation Spectrum of ALMS1.

Marshall JD et al.

Human Mutation, 2015

Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.

Wang X et al.

Human Mutation, 2011

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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."