Varaico: Literature-Extracted Genetic Variants

Gene:MPDZ
Variant:p.R178Splc
Back to variants list

MPDZ

NM_001378778.1:p.R178Splc

Associated Papers

Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature.

Rad A et al.

Clinical Genetics, 2024

Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.

Al-Jezawi NK et al.

Bmc Medical Genetics, 2018

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.

Saugier-Veber P et al.

Acta Neuropathologica Communications, 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."