Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.R2669*
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ALMS1

NM_001378454.1:p.R2669*

Associated Papers

Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa.

Sun HN et al.

Molecular Genetics & Genomic Medicine, 2025

Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan.

Saeed S et al.

Diabetes, 2020

Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.

Chen JH et al.

Molecular Genetics & Genomic Medicine, 2017

Familial Alström syndrome: a rare cause of bilateral progressive hearing loss.

Bahmad F et al.

Brazilian Journal of Otorhinolaryngology, 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."