Varaico: Literature-Extracted Genetic Variants

Gene:CEP89
Variant:p.L554S
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CEP89

NM_032816.5:p.L554S

Associated Papers

Characterization of the BH1406 non-small cell lung cancer (NSCLC) cell line carrying an activating SOS1 mutation.

Hamilton G et al.

Translational Lung Cancer Research, 2024

39670010 (PubMed )
Supplement: tlcr-13-11-2987-supplementary.pdf

Embryonic signature distinguishes pediatric and adult rhabdoid tumors from other SMARCB1-deficient cancers.

Richer W et al.

Oncotarget, 2017

28427232 (PubMed )
Supplement: oncotarget-08-34245-s004.xlsx › Sheet_1

KBG syndrome involving a single-nucleotide duplication in ANKRD11.

Kleyner R et al.

Cold Spring Harbor Molecular Case Studies, 2016

27900361 (PubMed )
Supplement: supp_mcs.a001131_Supp_File_4_Tables_1-3.zip › Supplementary_Table_1.xlsx › VAAST_results_38836_recessive.c

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8
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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."