Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.E636*
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ALMS1

NM_015120.4:p.E636*

Associated Papers

Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis.

Srikrupa NN et al.

Human Genome Variation, 2021

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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."