Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC3
Variant:p.D76fs
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EXOSC3

NM_016042.4:p.D76fs

Associated Papers

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.

Eggens VR et al.

Orphanet Journal of Rare Diseases, 2014

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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."