Varaico: Literature-Extracted Genetic Variants

Gene:MADCAM1
Variant:p.D234N
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MADCAM1

NM_130760.3:p.D234N

Associated Papers

Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.

Körber V et al.

Nature Genetics, 2023

36973454 (PubMed )
Supplement: 41588_2023_1332_MOESM4_ESM.xlsx › Supplementary_Table_7

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › PT1-SNP

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa.

Chiereghin C et al.

Frontiers in Genetics, 2021

33643381 (PubMed )
Supplement: Table_3.xlsx › Foglio1

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s005.xlsx › Sheet1

A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report.

Liu Q et al.

Bmc Medical Genetics, 2018

29587644 (PubMed )
Supplement: 12881_2018_564_MOESM1_ESM.xlsx › __1

Vemurafenib-resistance via de novo RBM genes mutations and chromosome 5 aberrations is overcome by combined therapy with palbociclib in thyroid carcinoma with BRAFV600E.

Antonello ZA et al.

Oncotarget, 2017

29156680 (PubMed )
Supplement: oncotarget-08-84743-s005.xls › Sheet1

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_1_primary

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s004.pdf

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Villa F et al.

Immunity & Ageing : I & A, 2014

25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
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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."