Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2NLC
Variant:p.C30G
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NOTCH2NLC

NM_001364013.2:p.C30G

Associated Papers

Detection and characterization of rare variants in NOTCH2NLC causing false negative molecular diagnosis through long-read sequencing.

Zheng X et al.

European Journal of Human Genetics : Ejhg, 2025

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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."