Varaico: Literature-Extracted Genetic Variants

Gene:CDC27
Variant:p.A57T
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CDC27

NM_001256.6:p.A57T

Associated Papers

Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p-syndrome.

Luan Y et al.

Heliyon, 2025

39959475 (PubMed )
Supplement: mmc2.xlsx › Patient2-snvs

Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.

Xie Y et al.

Children (basel, Switzerland), 2022

36670631 (PubMed )
Supplement: children-10-00080-s001.zip › children-2044403-supplementary › children-2044403-Supplementary › Supplementary_Tables-R1.xlsx › STS5

Anti-tumor activity of cetuximab plus avelumab in non-small cell lung cancer patients involves innate immunity activation: findings from the CAVE-Lung trial.

Della Corte CM et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2022

35346313 (PubMed )
Supplement: 13046_2022_2332_MOESM3_ESM.xlsx › Foglio1

Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Liu F et al.

Signal Transduction and Targeted Therapy, 2021

33563892 (PubMed )
Supplement: 41392_2020_412_MOESM20_ESM.xlsx › Supplementary_Table_S19

A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).

Low JL et al.

Ebiomedicine, 2021

33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity.

Fareed M et al.

Frontiers in Genetics, 2021

34113375 (PubMed )
Supplement: Data_Sheet_1.pdf

KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.

Kumar K et al.

Bmc Medical Genetics, 2020

32590954 (PubMed )
Supplement: 12881_2020_1074_MOESM1_ESM.xlsx › Sheet1

Discovery of Novel Recurrent Mutations and Clinically Meaningful Subgroups in Nodal Marginal Zone Lymphoma.

Koh J et al.

Cancers, 2020

32585984 (PubMed )
Supplement: cancers-12-01669-s001.zip › NMZL_Suppletab_Koh_et_al_Cancers_rev.xlsx › Table_S2

Comprehensive Analysis of CDC27 Related to Peritoneal Metastasis by Whole Exome Sequencing in Gastric Cancer.

Wu R et al.

Oncotargets and Therapy, 2020

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › BE-2C

Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma.

Park JH et al.

Translational Oncology, 2018

29925043 (PubMed )
Supplement: mmc3.xlsx › Table_6

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5

Bronchoalveolar Lavage as Potential Diagnostic Specimens to Genetic Testing in Advanced Nonsmall Cell Lung Cancer.

Lin X et al.

Technology in Cancer Research & Treatment, 0

37743841 (PubMed )
Supplement: sj-xlsx-1-tct-10.1177_15330338231202881.xlsx › Table_S4
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