Varaico: Literature-Extracted Genetic Variants

Gene:PLD1
Variant:p.I25K
Back to variants list

PLD1

NM_002662.5:p.I25K

Associated Papers

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

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."