Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.G3958Splc
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ALMS1

NM_001378454.1:p.G3958Splc

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

Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome.

Chakroun A et al.

European Journal of Medical Genetics, 2016

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient.

Sanyoura M et al.

European Journal of Human Genetics : Ejhg, 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."