Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.R3607W
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ALMS1

NM_015120.4:p.R3607W

Associated Papers

New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome.

Cheng WY et al.

Bmc Ophthalmology, 2022

Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia.

Ding Y et al.

Journal of Diabetes Investigation, 2021

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.

Rethanavelu K et al.

American Journal of Medical Genetics. Part A, 2020

Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes.

Jinda W et al.

Investigative Ophthalmology & Visual Science, 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."