Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.N414I
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TPP1

NM_000391.4:p.N414I

Associated Papers

Non-MPL-W515K/L mutations in myeloproliferative neoplasms: Insights from two case reports and a review of the literature.

Tønne Nesse AS et al.

Expert Review of Hematology, 2025

Cardiac arrhythmia and epilepsy genetic variants in sudden unexpected death in epilepsy.

Aschner A et al.

Frontiers in Neurology, 2024

Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.

Li N et al.

Npj Breast Cancer, 2021

34117267 (PubMed )
Supplement: 41523_2021_279_MOESM2_ESM.xlsx › Supp._Table_4b_Recurrent_MS

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.

Garton FC et al.

Molecular Genetics & Genomic Medicine, 2017

28717666 (PubMed )
Supplement: MGG3-5-418-s001.xlsx › SuppTable_5_

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-19.xlsx › S_Data_18
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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."