Varaico: Literature-Extracted Genetic Variants

Gene:MBD4
Variant:p.E314fs
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MBD4

NM_001276270.2:p.E314fs

Associated Papers

Dual phenotypes in recurrent astrocytoma, IDH-mutant; coexistence of IDH-mutant and IDH-wildtype components: a case report with genetic and epigenetic analysis.

Yamaguchi J et al.

Acta Neuropathologica Communications, 2024

39456052 (PubMed )
Supplement: 40478_2024_1879_MOESM3_ESM.xlsx › NGY-R2B

Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.

Villy MC et al.

Journal of the National Cancer Institute, 2024

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10487.xls › SNVIndel

Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype.

Blombery P et al.

British Journal of Haematology, 2022

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

Palles C et al.

American Journal of Human Genetics, 2022

A systematic genome-wide mapping of oncogenic mutation selection during CRISPR-Cas9 genome editing.

Sinha S et al.

Nature Communications, 2021

34764240 (PubMed )
Supplement: 41467_2021_26788_MOESM14_ESM.zip › Source_Data › Source_Data_Figure_1-6.xlsx › Figure_6F

Germline MBD4 Mutations and Predisposition to Uveal Melanoma.

Derrien AC et al.

Journal of the National Cancer Institute, 2021

Female adnexal tumors of probable Wolffian origin: morphological, immunohistochemical, and molecular analysis of 15 cases.

Bennett JA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

Elucidating the pathogenesis of synchronous and metachronous tumors in a woman with endometrioid carcinomas using a whole-exome sequencing approach.

Wu RC et al.

Cold Spring Harbor Molecular Case Studies, 2017

29162652 (PubMed )
Supplement: supp_mcs.a001693_Supplemental_Table_2.xlsx › Supplementary_Table_2.txt
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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."