Varaico: Literature-Extracted Genetic Variants

Gene:CCN3
Variant:p.I328T
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CCN3

NM_002514.4:p.I328T

Associated Papers

A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans.

Manzoor H et al.

European Journal of Human Genetics : Ejhg, 2023

Whole exome sequencing reveals novel NOV and DCAF13 variants in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy.

Lin H et al.

Neuroscience Letters, 2018

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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."