Varaico: Literature-Extracted Genetic Variants

Gene:TRAIP
Variant:p.R185*
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TRAIP

NM_005879.3:p.R185*

Associated Papers

Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.

Drexler KA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Diagnostic yield and psychological outcomes among women pursuing trio-exome sequencing: Do women with recurrent anomalous fetal phenotypes experience more negative psychological outcomes?

Talati AN et al.

Prenatal Diagnosis, 2023

Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.

Pauta M et al.

Journal of Clinical Medicine, 2021

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.

Vora NL et al.

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

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

Harley ME et al.

Nature Genetics, 2016

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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."