Varaico: Literature-Extracted Genetic Variants

Gene:PRDM1
Variant:p.S354N
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PRDM1

NM_001198.4:p.S354N

Associated Papers

Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing.

Kassem PH et al.

Bmc Medical Genomics, 2024

39123171 (PubMed )
Supplement: 12920_2024_1965_MOESM1_ESM.pdf

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

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1

IGLV3-21*01 is an inherited risk factor for CLL through the acquisition of a single-point mutation enabling autonomous BCR signaling.

Maity PC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

32047037 (PubMed )
Supplement: pnas.1913810117.sapp.pdf

Primary renal well-differentiated neuroendocrine tumour (carcinoid): next-generation sequencing study of 11 cases.

Pivovarcikova K et al.

Histopathology, 2019

Targeted next generation sequencing reveals high mutation frequency of CREBBP, BCL2 and KMT2D in high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.

Evrard SM et al.

Haematologica, 2019

The genetic background of inflammatory bowel disease: from correlation to causality.

Uniken Venema WT et al.

The Journal of Pathology, 2017

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_S6

Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies.

Ellinghaus D et al.

Gastroenterology, 2013

Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.

Beaudoin M et al.

Plos Genetics, 2013

24068945 (PubMed )
Supplement: pgen.1003723.s018.xlsx › Supporting_Table_4

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › mda-mb468_f40r3
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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."