Varaico: Literature-Extracted Genetic Variants

Gene:TPTE
Variant:p.M348V
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TPTE

NM_199261.4:p.M348V

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

A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.

Tariq H et al.

Journal of Clinical Neurology (seoul, Korea), 2018

30198223 (PubMed )
Supplement: jcn-14-498-s001.xls › homo_0.01_filter

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › M121224
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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."