Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.M2042T
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NOTCH2

NM_024408.4:p.M2042T

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

Capillary Malformation-Arteriovenous Malformation Combined Alagille Syndrome in a Patient With Double Gene Variations of RASA1 and NOTCH2.

Zheng Y et al.

Frontiers in Genetics, 2019

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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."