Varaico: Literature-Extracted Genetic Variants

Gene:NDE1
Variant:p.R28Splc
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NDE1

NM_017668.3:p.R28Splc

Associated Papers

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Yuan B et al.

Genome Medicine, 2022

36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6

NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly.

Bas H et al.

American Journal of Medical Genetics. Part A, 2022

Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review.

Tan L et al.

Bmc Medical Genetics, 2017

Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.

Guven A et al.

Neurogenetics, 2012

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.

Bakircioglu M et al.

American Journal of Human Genetics, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."