Varaico: Literature-Extracted Genetic Variants

Gene:PTPN1
Variant:p.R156*
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PTPN1

NM_002827.4:p.R156*

Associated Papers

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.

Zhu G et al.

The Lancet. Neurology, 2025

Recurrent somatic mutations of PTPN1 in primary mediastinal B cell lymphoma and Hodgkin lymphoma.

Gunawardana J et al.

Nature Genetics, 2014

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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."