Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.G256E
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ALMS1

NM_001378454.1:p.G256E

Associated Papers

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome.

Shi J et al.

Frontiers in Genetics, 2022

36685911 (PubMed )
Supplement: Table3.XLSX › Sheet1

Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene.

Aldrees A et al.

Ophthalmic Genetics, 2019

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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."