De novo and inherited private variants in MAP1B in periventricular nodular heterotopia
심실주위 결절성 이형에서 MAP1B의 드 노보 및 유전된 사적 변이체
Research Article
[키워드] abnormality
affected
allele
Analysis
arising
association
Author
Brain
brain development
caused
chance
Collapsing
controls
cortical
de novo
de novo mutation
de novo mutations
detrimental
Diseases
disorder
driven by
ENCODE
epilepsy
Exome
exome sequencing
expected
explain
fetal
Genetic
genetic risk
Genetic variant
genetic variants
genome-wide significant
heterozygous variant
identify
implicated
incomplete penetrance
indicate
individual
initial
involved
leads
list of gene
loci
loss-of-function
malformation
MAP1B
Migration
Mutation
Neuron
neurons
nonsynonymous
occur
one patient
parent
parents
patients
performed
predominant
Protein
responsible
sequence
sequenced
Sequencing
the disease
the patient
transmitted
variant
variants
[DOI] 10.1371/journal.pgen.1007281 PMC 바로가기 [Article Type] Research Article
[DOI] 10.1371/journal.pgen.1007281 PMC 바로가기 [Article Type] Research Article