Varaico: Literature-Extracted Genetic Variants

Gene:TRAIP
Variant:p.P47L
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TRAIP

NM_005879.3:p.P47L

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 ultrasound diagnosis of Seckel syndrome with bi-allelic variant in TRAIP via exome sequencing.

Conrad D et al.

Journal of Clinical Ultrasound : Jcu, 2022

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

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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."