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nodular heterotopia
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
PVNH3
ARF1
PVNH5
ARFGEF2
ERMARD
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
potassium channel regulator activity
regulation of potassium ion transmembrane transport
positive regulation of cation transmembrane transport
channel regulator activity
Filamin A
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Congenital anomaly of brain
OMIM - Congenital disorder
OMIM - Disorder of brain
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Literature
Most Relevant Literature
Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filam…
Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history an…
Phenotypic manifestations in FLNA-related periventricular nodular heterotopia: a case report and rev…
Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation…
The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia.
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Clinical Trials
Most Relevant Clinical Trials
A Deep Brain Stimulation System in Epilepsy: Tracking Neural Excitability
Functional Tests to Resolve Unsolved Rare Diseases. Rares.
Epilepsy Phenome/Genome Project
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