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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NAPB

Variant:p.G189E

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NAPB

NM_022080.3:p.G189E

hg38:chr20:23381313 C>T

Associated Papers

Epileptic Encephalopathy of Unknown Cause in Turkey Indicates a New Homozygous NAPB Gene Variant.

Orak SA et al.

Molecular Syndromology, 2024

39359942 (PubMed )

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