Varaico: Literature-Extracted Genetic Variants

Gene:NKAP
Variant:p.R361Q
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NKAP

NM_024528.4:p.R361Q

Associated Papers

From phenotype to mechanism: Prenatal spectrum of NKAP mutation-related disorder and its pathogenesis inducing congenital heart disease.

Xu X et al.

Journal of Cellular and Molecular Medicine, 2024

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

Fiordaliso SK et al.

American Journal of Human Genetics, 2019

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Hu H et al.

Molecular Psychiatry, 2016

25644381 (PubMed )
Supplement: mp2014193x1.pdf

Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.

Morin RD et al.

Nature, 2011

21796119 (PubMed )
Supplement: NIHMS313098-supplement-6.xls › table_1_validation_with_RNA_seq
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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."