Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.V86A
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COL6A3

NM_057164.5:p.V86A

Associated Papers

Whole-exome sequencing in a cohort of Chinese patients with isolated cervical dystonia.

Wu R et al.

Heliyon, 2024

The molecular genetics of anterior segment dysgenesis.

Kuang L et al.

Experimental Eye Research, 2023

A novel compound heterozygous mutation of COL6A3 in Chinese patients with isolated cervical dystonia.

Wu R et al.

Frontiers in Neurology, 2023

Novel Mutations in COL6A3 That Associated With Peters' Anomaly Caused Abnormal Intracellular Protein Retention and Decreased Cellular Resistance to Oxidative Stress.

Li Y et al.

Frontiers in Cell and Developmental Biology, 2020

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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."