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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NOTCH2

Variant:p.R2400Q

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NOTCH2

NM_024408.4:p.R2400Q

hg38:chr1:119915523 C>T

Associated Papers

Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation.

Tan EC et al.

American Journal of Medical Genetics. Part A, 2022

35289498 (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."