Varaico: Literature-Extracted Genetic Variants

Gene:TRAF7
Variant:p.L519P
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TRAF7

NM_032271.3:p.L519P

Associated Papers

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

Palma-Milla C et al.

Pediatric Neurology, 2024

TRAF7-mutated Fibromyxoid Spindle Cell Tumors Are Associated With an Aggressive Clinical Course and Harbor an Undifferentiated Sarcoma Methylation Signature: A Molecular and Clinicopathologic Study of 3 Cases.

Dermawan JK et al.

The American Journal of Surgical Pathology, 2023

TRAF7 mutations and immunohistochemical study of uterine adenomatoid tumor compared with malignant mesothelioma.

Itami H et al.

Human Pathology, 2021

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Castilla-Vallmanya L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Adenomatoid tumors of the male and female genital tract are defined by TRAF7 mutations that drive aberrant NF-kB pathway activation.

Goode B et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

Genomic analysis reveals frequent TRAF7 mutations in intraneural perineuriomas.

Klein CJ et al.

Annals of Neurology, 2017

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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."