Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.P259delFs
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ALMS1

NM_015120.4:p.P259delFs

Associated Papers

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

Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria.

Casey J et al.

European Journal of Medical Genetics, 2014

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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."