Varaico: Literature-Extracted Genetic Variants

Gene:PRDM2
Variant:p.D287del1
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PRDM2

NM_001393986.1:p.D287del1

Associated Papers

A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Peng L et al.

Cell Death & Disease, 2022

35459861 (PubMed )
Supplement: 41419_2022_4844_MOESM4_ESM.xlsx › Supplementary_Table_3

RUNX1 mutations in blast-phase chronic myeloid leukemia associate with distinct phenotypes, transcriptional profiles, and drug responses.

Adnan Awad S et al.

Leukemia, 2021

32782381 (PubMed )
Supplement: 41375_2020_1011_MOESM5_ESM.xlsx › Mutation_in_Australian_cohort

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

Wesdorp M et al.

American Journal of Human Genetics, 2018

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › b__Freq_TP096

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Feliubadaló L et al.

Scientific Reports, 2017

28050010 (PubMed )
Supplement: srep37984-s2.xls › Exome_geMODERATE_variants
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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."