Varaico: Literature-Extracted Genetic Variants

Gene:TRAF7
Variant:p.R524W
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TRAF7

NM_032271.3:p.R524W

Associated Papers

Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.

Guo R et al.

Scientific Reports, 2025

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Continuous_TISF_monitoring

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

The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.

Pisan E et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report.

Chaisrisawadisuk S et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2022

Prognostic impact of genetic alterations and methylation classes in meningioma.

Berghoff AS et al.

Brain Pathology (zurich, Switzerland), 2022

35213082 (PubMed )
Supplement: BPA-32-e12970-s001.xlsx › Sheet1

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM5_ESM.xlsx › Supplementary_Data_3

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

A Patient With TRAF7-Related Neurodevelopmental Disorder Without Developmental Delay or Intellectual Disability.

Fukuda K et al.

Congenital Anomalies, 0

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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."