Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.S1142*
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ALMS1

NM_015120.4:p.S1142*

Associated Papers

Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome.

Dassie F et al.

American Journal of Medical Genetics. Part A, 2021

ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis.

Zulato E et al.

Plos One, 2011

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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."