Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC8
Variant:p.S116fs
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EXOSC8

NM_181503.3:p.S116fs

Associated Papers

A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.

Zaki MS et al.

Journal of Human Genetics, 2024

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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."