Varaico: Literature-Extracted Genetic Variants

Gene:CCDC15
Variant:p.R606L
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CCDC15

NM_025004.3:p.R606L

Associated Papers

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing.

Lin PC et al.

Molecular Genetics & Genomic Medicine, 2020

32160409 (PubMed )
Supplement: MGG3-8-e1220-s001.xlsx › ___1

Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations.

Grant AD et al.

Scientific Reports, 2019

31484939 (PubMed )
Supplement: 41598_2019_48967_MOESM2_ESM.xls › Supplementary_Variant_File

Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia.

Yang M et al.

Nature Communications, 2019

30944321 (PubMed )
Supplement: 41467_2019_9469_MOESM5_ESM.xlsx › ST2

Identification of multiple mechanisms of resistance to vemurafenib in a patient with BRAFV600E-mutated cutaneous melanoma successfully rechallenged after progression.

Romano E et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013

23948972 (PubMed )
Supplement: 10780432ccr130661-sup-supp_tables.pdf
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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."