Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.T376S
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ALMS1

NM_001378454.1:p.T376S

Associated Papers

Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families.

Saadah OI et al.

Frontiers in Pediatrics, 2021

Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients.

Kamal NM et al.

Saudi Journal of Biological Sciences, 2020

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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."