Associated Papers
Paternal somatogonadal COL2A1 mosaicism causing recurrence of severe type 2 collagenopathy.
Morrison PJ et al.
American Journal of Medical Genetics. Part A, 2020
Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.
Boot A et al.
Genome Research, 2020
32661091 (PubMed )
Supplement: supp_gr.255620.119_Supplemental_Table_S2.xlsx › Sheet1
Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents.
Okamoto T et al.
American Journal of Medical Genetics. Part A, 2012
Molecular genetics of the COL2A1-related disorders.
Deng H et al.
Mutation Research. Reviews in Mutation Research, 0
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