Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC10
Variant:p.D295A
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EXOSC10

NM_001001998.3:p.D295A

Associated Papers

EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signalling.

Ulmke PA et al.

Brain : a Journal 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."