Varaico: Literature-Extracted Genetic Variants

Gene:COL6A1
Variant:p.G296R
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COL6A1

NM_001848.3:p.G296R

Associated Papers

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .

Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.

Liang WC et al.

Plos One, 2017

Correction: Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.

Liang WC et al.

Plos One, 0

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