Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.L2669F
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ALMS1

NM_015120.4:p.L2669F

Associated Papers

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.

Fadaie Z et al.

Npj Genomic Medicine, 2021

34795310 (PubMed )
Supplement: 41525_2021_261_MOESM2_ESM.pdf

Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes.

Castro-Sánchez S et al.

Plos One, 2017

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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."