Varaico: Literature-Extracted Genetic Variants

Gene:PLD1
Variant:p.R407*
Back to variants list

PLD1

NM_002662.5:p.R407*

Associated Papers

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons.

Taniguchi K et al.

Molecular Genetics & Genomic Medicine, 2025

40078074 (PubMed )
Supplement: MGG3-13-e70092-s002.xlsx › Supplementary_Table_1

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

Spinal solitary fibrous tumor of the neck: Next-generation sequencing-based analysis of genomic aberrations.

Ando M et al.

Auris, Nasus, Larynx, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."