Varaico: Literature-Extracted Genetic Variants

Gene:PLAA
Variant:p.L752F
Back to variants list

PLAA

NM_001031689.3:p.L752F

Associated Papers

Phospholipase A2-activating protein induces mitophagy through anti-apoptotic MCL1-mediated NLRX1 oligomerization.

Zheng Z et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2023

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_

Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies in China caused by novel mutations of PLAA.

Dai C et al.

Clinical Genetics, 2019

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.

Hall EA et al.

American Journal of Human Genetics, 2017

Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.

Falik Zaccai TC et al.

Brain : a Journal of Neurology, 2017

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."