Varaico: Literature-Extracted Genetic Variants

Gene:NRXN2
Variant:p.A270insFs
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NRXN2

NM_015080.4:p.A270insFs

Associated Papers

NRXN2 Homozygous Variant Identified in a Family with Global Developmental Delay, Severe Intellectual Disability, EEG Abnormalities and Speech Delay: A new Syndrome?

Karaer D et al.

Clinical Eeg and Neuroscience, 2025

Rare heterozygous genetic variants of NRXN and NLGN gene families involved in synaptic function and their association with neurodevelopmental disorders.

Gerik-Celebi HB et al.

Developmental Neurobiology, 2024

Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.

Feng L et al.

Journal of Oncology, 2019

31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1

Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing.

Wu J et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2018

Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.

Wolff RK et al.

Genes, Chromosomes & Cancer, 2018

29575536 (PubMed )
Supplement: GCC-57-366-s004.xlsx › MSI

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S10_CC-1_coding_Indels

Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.

Li J et al.

Molecular Psychiatry, 2017

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