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MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
Known as:
EIEE10
, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10
, MCSZ
National Institutes of Health
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Related topics
Related topics
6 relations
Autosomal recessive inheritance
Hyperactive behavior
Hypoplasia of the corpus callosum
Intellectual disability, severe
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Lingering single-strand breaks trigger Rad51-independent homology-directed repair of collapsed replication forks in the polynucleotide kinase/phosphatase mutant of fission yeast
Arancha Sánchez
,
Mariana C. Gadaleta
,
Oliver Limbo
,
P. Russell
bioRxiv
2017
Corpus ID: 3845100
The DNA repair enzyme polynucleotide kinase/phosphatase (PNKP) protects genome integrity by restoring ligatable 5’-phosphate and…
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2011
2011
The role of human DNA glycosylase NEIL 2 and the single-strand break repair protein polynucleotide kinase 3 '-phosphatase in maintenance of the mitochondrial genome
S. Mandal
,
M. Hegde
,
+9 authors
T. Hazra
2011
Corpus ID: 29584862
The repair of reactive oxygen species (ROS)-induced base lesions and single-strand breaks (SSBs) in the nuclear genome via the…
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2010
2010
DNA repair deficiency in a newly identified neurological disease.
K. Huang
Clinical Genetics
2010
Corpus ID: 28915004
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair Shen et al. (2010) Nature Genetics 42(3…
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