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Pnpla6
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Summary
General Info
Body Atlas
Most Correlated Tissues
Eosinophil of peripheral blood
Whole brain
Prefrontal cortex
Testis seminiferous tubule
Lung
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Disease Atlas
Most Correlated Diseases
Spinocerebellar ataxia
Encephalomyelopathy
Paralytic syndrome
Disorder of pituitary gland
Bacterial sepsis of newborn
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Pharmaco Atlas
Most Correlated Compounds
N-acetylmuramic acid
Ethosuximide
Methacholine Chloride
indole
mebhydroline
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Knockdown Atlas
Most Correlated Gene Perturbations
hsa-miR-365a-3p
LRWD1
FZD1
AFF1
UPF3B
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Literature
Most Relevant Literature
PNPLA6 disorders: what's in a name?
Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene.
A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.
Novel variants in PNPLA6 causing syndromic retinal dystrophy.
Bi-allelic variants in PNPLA6 possibly associated with Parkinsonian features in addition to spastic …
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