Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.R2234H
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NOTCH3

NM_000435.3:p.R2234H

Associated Papers

Exome sequencing of a Portuguese cohort of early-onset Alzheimer's disease implicates the X-linked lysosomal gene GLA.

Tábuas-Pereira M et al.

Scientific Reports, 2025

Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care.

Muller E et al.

Cancer Medicine, 2015

26155992 (PubMed )
Supplement: cam40004-1484-sd2.xlsx › supplementaryTab_S2
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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."