Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC8
Variant:p.C137Y
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EXOSC8

NM_181503.3:p.C137Y

Associated Papers

Exploring Pontocerebellar Hypoplasia Type 1C: A Case Study of the 6 th Family with The EXOSC8 Gene Mutation.

Sharifi S et al.

Annals of Indian Academy of Neurology, 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."