Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.S297F
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ALMS1

NM_015120.4:p.S297F

Associated Papers

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."