Varaico: Literature-Extracted Genetic Variants

Gene:UBE3C
Variant:p.C1051S
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UBE3C

NM_014671.3:p.C1051S

Associated Papers

Loss-of-function mutation in PRMT9 causes abnormal synapse development by dysregulation of RNA alternative splicing.

Shen L et al.

Nature Communications, 2024

VPS34 K29/K48 branched ubiquitination governed by UBE3C and TRABID regulates autophagy, proteostasis and liver metabolism.

Chen YH et al.

Nature Communications, 2021

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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."