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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXOSC8

Variant:p.N115_K130delFs

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EXOSC8

NM_181503.3:p.N115_K130delFs

hg38:chr13:37006111 CAAGTTCACAGATAATTCAGAAAGAGGACTTATGCATTTCTCCAGGA>C

Associated Papers

New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient.

Rodríguez-García ME et al.

Neuromuscular Disorders : Nmd, 2021

34210538 (PubMed )

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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."