Varaico: Literature-Extracted Genetic Variants

Gene:CBLC
Variant:p.P435S
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CBLC

NM_012116.4:p.P435S

Associated Papers

Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers.

Lin I et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38370823 (PubMed )
Supplement: media-1.xlsx › Table_S5_CHIPVAFlt03

Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.

Kiefer KC et al.

Esc Heart Failure, 2021

33779075 (PubMed )
Supplement: EHF2-8-1873-s002.xlsx › Sheet1

Hematopoietic alterations in chronic heart failure patients by somatic mutations leading to clonal hematopoiesis.

Dorsheimer L et al.

Haematologica, 2020

The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Hoffmann MJ et al.

Bladder Cancer (amsterdam, Netherlands), 2016

28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs

Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Creixell P et al.

Cell, 2015

26388441 (PubMed )
Supplement: mmc10.zip › DataFileS6_ReKINectOutputTOV21.xlsx › TOV21.standardfilteringd10_Mut_

CBL mutations in myeloproliferative neoplasms are also found in the gene's proline-rich domain and in patients with the V617FJAK2.

Aranaz P et al.

Haematologica, 2012

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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."