Varaico: Literature-Extracted Genetic Variants

Gene:EPS15
Variant:p.I363V
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EPS15

NM_001981.3:p.I363V

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."