Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.H624R
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ALMS1

NM_001378454.1:p.H624R

Associated Papers

Whole-Genome Sequencing Identifies Novel Heterozygous Mutation in ALMS1 in Three Men With Both Peyronie's and Dupuytren's Disease.

Dullea A et al.

Urology, 2022

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

Chen JH et al.

Molecular Genetics & Genomic Medicine, 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."