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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NUP107

Variant:p.F63fs

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NUP107

NM_020401.4:p.F63fs

hg38:chr12:68690631 TT>N

Associated Papers

Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations.

Bonde LD et al.

Journal of Medical Genetics, 2025

40350250 (PubMed )

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