Varaico: Literature-Extracted Genetic Variants

Gene:COLEC10
Variant:p.G77fs
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COLEC10

NM_006438.5:p.G77fs

Associated Papers

COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

Munye MM et al.

Plos Genetics, 2017

28301481 (PubMed )
Supplement: pgen.1006679.s009.xls › family_19_final_exome_variants
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