Varaico: Literature-Extracted Genetic Variants

Gene:NUMA1
Variant:p.K242R
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NUMA1

NM_006185.4:p.K242R

Associated Papers

Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes.

Ganesh S et al.

Psychiatry and Clinical Neurosciences, 2019

30367527 (PubMed )
Supplement: PCN-73-11-s002.xlsx › Table_3

Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

Oliveira DM et al.

Oncotarget, 2018

29844865 (PubMed )
Supplement: oncotarget-09-23960-s003.xlsx › Supplemental_Table_S2

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_OtherCG

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
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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."