Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP5
Variant:p.R276W
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CNTNAP5

NM_001367498.1:p.R276W

Associated Papers

ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome.

West RR et al.

Blood Advances, 2022

34529785 (PubMed )
Supplement: advancesADV2021005065-suppl1.pdf

Nonlinear tumor evolution from dysplastic nodules to hepatocellular carcinoma.

Joung JG et al.

Oncotarget, 2017

27409339 (PubMed )
Supplement: oncotarget-08-2076-s001.pdf

Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.

Morin RD et al.

Nature, 2011

21796119 (PubMed )
Supplement: NIHMS313098-supplement-6.xls › table_1_validation_with_RNA_seq
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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."