Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.E283fs
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ALMS1

NM_001378454.1:p.E283fs

Associated Papers

Co-occurrence of homozygous ALMS1 variant, 17q11.2 mosaic and germline deletions, and VSX2 nonsense variant in a single family.

Mammadova N et al.

Molecular Biology Reports, 2025

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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."