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Description
COL3A1 testing identified the Glu682Lys variant (identical pathogenic variant to family 1 and family 4), which was subsequently identified in the father (IV.1) and another daughter (V.3)
Jeppesen DK, Fenix AM, Franklin JL, Higginbotham JN, Zhang Q, Zimmerman LJ, et al
Glutathione synthesis in Streptococcus agalactiae
Funny how they also never say that heme iron is linked to cancer
[DOI] [PubMed] [Google Scholar] Reinaud O
