Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.D588N
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COL6A3

NM_004369.4:p.D588N

Associated Papers

Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer.

Villacis RAR et al.

International Journal of Molecular Sciences, 2024

39408606 (PubMed )
Supplement: ijms-25-10275-s001.zip › Supplementary_Tables_-_Revised.xlsx › Table_S5

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

Wu R et al.

Heliyon, 2024

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

Wu R et al.

Frontiers in Neurology, 2023

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