Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.P2070P
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COL6A3

NM_004369.4:p.P2070P

Associated Papers

Substitutions of nucleotides at the 3' ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategies.

Lee SA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Ikegami M et al.

Communications Biology, 2021

34912045 (PubMed )
Supplement: 42003_2021_2930_MOESM4_ESM.xlsx › Whole_exome_frozen
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