Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.C878Y
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NOTCH1

NM_017617.5:p.C878Y

Associated Papers

Ehlers-Danlos syndrome type IV is associated with a novel G984R COL3A1 mutation.

Deng Y et al.

Molecular Medicine Reports, 2015

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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."