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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MBOAT7

Variant:p.P144P

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MBOAT7

NM_024298.5:p.P144P

hg38:chr19:54183582 G>A

Associated Papers

Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder.

Nazmina G et al.

Clinical Genetics, 2024

38088234 (PubMed )

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