Varaico: Literature-Extracted Genetic Variants

Gene:PLD1
Variant:p.R391C
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PLD1

NM_002662.5:p.R391C

Associated Papers

Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.

Sun H et al.

Ebiomedicine, 2025

40347836 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table_7

Genetic etiology and pregnancy outcomes of abnormal fluid accumulation in fetus: A retrospective cohort study.

Cai M et al.

Plos One, 2025

Detection of Novel Pathogenic Variants in Two Families with Recurrent Fetal Congenital Heart Defects.

Cai R et al.

Pharmacogenomics and Personalized Medicine, 2023

Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect.

Qiao F et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2021

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

Lahrouchi N et al.

The Journal of Clinical Investigation, 2021

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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."