Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.V939E
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ALMS1

NM_001378454.1:p.V939E

Associated Papers

Alström Syndrome Presenting as Isolated Dilated Cardiomyopathy.

Nerakh G et al.

Indian Journal of Pediatrics, 2019

Variable clinical course of identical twin neonates with Alström syndrome presenting coincidentally with dilated cardiomyopathy.

Hollander SA et al.

American Journal of Medical Genetics. Part A, 2017

Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.

Wang X et al.

Plos One, 2016

Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity.

Das Bhowmik A et al.

Obesity Research & Clinical Practice, 0

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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."