Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-020-02226-3.pdf
Reference30 articles.
1. Anazi S, Maddirevula S, Faqeih E et al (2017) Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatry 22(4):615–624
2. Bauer P, Kandaswamy KK, Weiss MER et al (2019) Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population. Genet Med 21(1):53–61
3. Belmonte MK, Allen G, Beckel-Mitchener A, Boulanger LM, Carper RA, Webb SJ (2004) Autism and abnormal development of brain connectivity. J Neurosci 24(42):9228–9231
4. Bergant G, Maver A, Lovrecic L, Cuturilo G, Hodzic A, Peterlin B (2018) Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1059 cases. Genet Med 20(3):303–312
5. Chicurel ME, Harris KM (1992) Three-dimensional analysis of the structure and composition of CA3 branched dendritic spines and their synaptic relationships with mossy fiber boutons in the rat hippocampus. J Comp Neurol 325(2):169–182
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