Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.A1084_Q1086delFs
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ALMS1

NM_015120.4:p.A1084_Q1086delFs

Associated Papers

Liver Fibrosis and Steatosis in Alström Syndrome: A Genetic Model for Metabolic Syndrome.

Bettini S et al.

Diagnostics (basel, Switzerland), 2021

Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome.

Dassie F et al.

American Journal of Medical Genetics. Part A, 2021

Syndromic obesity: clinical implications of a correct diagnosis.

Milani D et al.

Italian Journal of Pediatrics, 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."