Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC6
Variant:p.R77_G78insT
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EXOSC6

NM_058219.3:p.R77_G78insT

Associated Papers

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

Chen Y et al.

Medrxiv : the Preprint Server for Health Sciences, 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."