Varaico: Literature-Extracted Genetic Variants

Gene:PDGFB
Variant:p.T212M
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PDGFB

NM_002608.4:p.T212M

Associated Papers

Augmenting precision medicine via targeted RNA-Seq detection of expressed mutations.

Li D et al.

Npj Precision Oncology, 2025

40514442 (PubMed )
Supplement: 41698_2025_993_MOESM2_ESM.xlsx › RNA-unique_variants__Impacts_

The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Muscat AM et al.

Oncotarget, 2018

29487696 (PubMed )
Supplement: oncotarget-09-7844-s003.xlsx › Supplementary_Table_S2

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S13

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Ostrowski J et al.

Scientific Reports, 2016

28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7

Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome.

Sutajová M et al.

Genomics, 2004

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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."