Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.T1386fs
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ALMS1

NM_015120.4:p.T1386fs

Associated Papers

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Astuti D et al.

Human Mutation, 2017

Genetic evaluation of patients with Alström syndrome in the Polish population.

Zmyslowska A et al.

Clinical Genetics, 2016

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

Ozantürk A et al.

Journal of Human Genetics, 2015

Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.

Kuburović V et al.

Clinical Dysmorphology, 2013

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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."