Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.W2680*
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ALMS1

NM_015120.4:p.W2680*

Associated Papers

The unique combination of dermatological and ocular phenotypes in Alström syndrome: severe presentation, early onset and two novel ALMS1 mutations.

Kocova M et al.

The British Journal of Dermatology, 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."