Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC9
Variant:p.V194L
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EXOSC9

NM_005033.3:p.V194L

Associated Papers

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.

Vetro A et al.

American Journal of Human Genetics, 2023

37421948 (PubMed )
Supplement: mmc1.pdf
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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."