Varaico: Literature-Extracted Genetic Variants

Gene:OTOA
Variant:p.N446S
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OTOA

NM_144672.4:p.N446S

Associated Papers

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.

Hüffmeier U et al.

Orphanet Journal of Rare Diseases, 2021

33736665 (PubMed )
Supplement: 13023_2021_1744_MOESM1_ESM.xls › Tabelle1
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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."