Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT1
Variant:p.P279L
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MBOAT1

NM_001080480.3:p.P279L

Associated Papers

Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis.

Scimone C et al.

International Journal of Molecular Sciences, 2020

32560555 (PubMed )
Supplement: ijms-21-04321-s001.zip › S2_Selected_Variants.xlsx › AVM1
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