Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.T3591fs
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ALMS1

NM_001378454.1:p.T3591fs

Associated Papers

Evaluation of human dermal fibroblasts directly reprogrammed to adipocyte-like cells as a metabolic disease model.

Chen JH et al.

Disease Models & Mechanisms, 2017

28982679 (PubMed )
Supplement: dmm-10-030981-s1.pdf

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."