Associated Papers
Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3.
Mohammadi P et al.
Molecular Genetics & Genomic Medicine, 2021
COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
Munye MM et al.
Plos Genetics, 2017
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