Varaico: Literature-Extracted Genetic Variants

Gene:TPSD1
Variant:p.Q31L
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TPSD1

NM_012217.3:p.Q31L

Associated Papers

A combinatorial oligogenic basis for the phenotypic plasticity between late-onset dilated and arrhythmogenic cardiomyopathy in a single family.

Pourebrahim K et al.

The Journal of Cardiovascular Aging, 2021

34790974 (PubMed )
Supplement: NIHMS1739287-supplement-Supplementary_Material.pdf

Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations.

Grant AD et al.

Scientific Reports, 2019

31484939 (PubMed )
Supplement: 41598_2019_48967_MOESM2_ESM.xls › Supplementary_Variant_File

A novel role for CRIM1 in the corneal response to UV and pterygium development.

Maurizi E et al.

Experimental Eye Research, 2019

Molecular characterization of metastatic pancreatic neuroendocrine tumors (PNETs) using whole-genome and transcriptome sequencing.

Wong HL et al.

Cold Spring Harbor Molecular Case Studies, 2018

29092957 (PubMed )
Supplement: supp_mcs.a002329_Supplemental_Data_1.xlsx › Case_3

Vemurafenib-resistance via de novo RBM genes mutations and chromosome 5 aberrations is overcome by combined therapy with palbociclib in thyroid carcinoma with BRAFV600E.

Antonello ZA et al.

Oncotarget, 2017

29156680 (PubMed )
Supplement: oncotarget-08-84743-s005.xls › 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
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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."