Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.R2047W
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NOTCH2

NM_024408.4:p.R2047W

Associated Papers

Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.

Wilke MVMB et al.

Orphanet Journal of Rare Diseases, 2024

38790019 (PubMed )
Supplement: 13023_2024_3213_MOESM2_ESM.pdf

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 17

Whole-genome sequencing in an autism multiplex family.

Shi L et al.

Molecular Autism, 2013

Genomics Integration Into Nephrology Practice.

Pinto E Vairo F et al.

Kidney Medicine, 0

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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."