PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 32389683-6 2020 COL6A3 mutation may be candidate as disease-associated variant, as far as it was found only in the proband harboring another heterozygous mutation in COL6A1 gene, previously reported as different pathogenic mutations (p.Gly275Arg and p.Gly275Glu) at the same codon in Bethlem myopathy. gly275arg 220-229 collagen type VI alpha 3 chain Homo sapiens 0-6