Varaico: Literature-Extracted Genetic Variants

Gene:HELZ2
Variant:p.P2274L
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HELZ2

NM_001037335.2:p.P2274L

Associated Papers

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.

Mkaouar R et al.

Plos One, 2021

34614013 (PubMed )
Supplement: pone.0258202.s003.xlsx › MAN2B1_gene_network_Phenolyzer

Whole exome sequencing in 75 high-risk families with validation and replication in independent case-control studies identifies TANGO2, OR5H14, and CHAD as new prostate cancer susceptibility genes.

Karyadi DM et al.

Oncotarget, 2017

27902461 (PubMed )
Supplement: oncotarget-08-1495-s003.xlsx › Sheet1

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8
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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."