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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MBOAT7

Variant:p.F134fs

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MBOAT7

NM_024298.5:p.F134fs

hg38:chr19:54183614 GAA>N

Associated Papers

MBOAT7 encephalopathy: Characterizing the neurology and epileptology.

De la Rosa SO et al.

Epilepsia, 2025

40116760 (PubMed )

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