Varaico: Literature-Extracted Genetic Variants

Gene:COL6A1
Variant:p.A935T
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COL6A1

NM_001848.3:p.A935T

Associated Papers

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.

Pan TC et al.

American Journal of Human Genetics, 2003

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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."