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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NOTCH3

Variant:p.P2231fs

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NOTCH3

NM_000435.3:p.P2231fs

hg38:chr19:15160937 TGG>N

Associated Papers

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.

Iruzubieta P et al.

Ebiomedicine, 2024

39191170 (PubMed )

Supplement: mmc1.pdf

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