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NECAP1 gene

Known as: NECAP endocytosis associated 1, DKFZP566B183, NECAP1 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration
Canine progressive retinal atrophies (PRA) are genetically heterogeneous diseases characterized by retinal degeneration and… 
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2019
2019
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21
We report the second case of early infantile epileptic encephalopathy (EIEE) arising from a homozygous truncating variant of… 
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2018
2018
Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy
Early onset epileptic encephalopathy (EOEE) has been used to encompass Ohtahara syndrome (early infantile epileptic… 
2014
2014
NECAP1 loss of function leads to a severe infantile epileptic encephalopathy
Background Epileptic encephalopathy is a broad clinical category that is highly heterogeneous genetically. Objective To describe… 
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