Varaico: Literature-Extracted Genetic Variants

Gene:PTPN1
Variant:p.R56W
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PTPN1

NM_002827.4:p.R56W

Associated Papers

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.

Zhu G et al.

The Lancet. Neurology, 2025

Somatic mutations of cell-free circulating DNA detected by targeted next-generation sequencing and digital droplet PCR in classical Hodgkin lymphoma.

Bessi L et al.

Leukemia & Lymphoma, 2019

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
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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."