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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NOTCH2

Variant:p.V1623G

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NOTCH2

NM_024408.4:p.V1623G

hg38:chr1:119922770 A>C

Associated Papers

Association of Very Rare NOTCH2 Variants with Clinical Features of Alagille Syndrome.

Ferrandino M et al.

Genes, 2024

39202394 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."