Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.S1240fs
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ALMS1

NM_001378454.1:p.S1240fs

Associated Papers

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.

Waldman M et al.

Molecular Genetics and Metabolism, 2018

Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.

Han JC et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.

Brofferio A et al.

Molecular Genetics and Metabolism, 2017

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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."