Varaico: Literature-Extracted Genetic Variants

Gene:NKAPL
Variant:p.A282T
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NKAPL

NM_001007531.3:p.A282T

Associated Papers

NKAPL facilitates transcription pause-release and bridges elongation to initiation during meiosis exit.

Kang Z et al.

Nature Communications, 2025

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2

Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines.

Zhou QH et al.

Cell Death & Disease, 2018

29880898 (PubMed )
Supplement: 41419_2018_736_MOESM8_ESM.xlsx › Sheet1

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Pagnamenta AT et al.

Human Molecular Genetics, 2015

25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2

Resequencing and association study of the NFKB activating protein-like gene (NKAPL) in schizophrenia.

Chen SF et al.

Schizophrenia Research, 2014

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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."