Varaico: Literature-Extracted Genetic Variants

Gene:TPR
Variant:p.I346T
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TPR

NM_003292.3:p.I346T

Associated Papers

Establishment and Thorough Characterization of Xenograft (PDX) Models Derived from Patients with Pancreatic Cancer for Molecular Analyses and Chemosensitivity Testing.

Behrens D et al.

Cancers, 2023

38136299 (PubMed )
Supplement: cancers-15-05753-s001.zip › Behrens_Cancers2023_SuppTables.xlsx › Table_S1

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Xiang J et al.

Scientific Reports, 2020

31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1

Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family.

Lindholm Carlström E et al.

Bmc Medical Genomics, 2019

A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.

Casolari DA et al.

Scientific Reports, 2017

28550306 (PubMed )
Supplement: 41598_2017_2655_MOESM2_ESM.xls › Combined__Use_

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 115.81
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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."