Varaico: Literature-Extracted Genetic Variants

Gene:HIVEP3
Variant:p.A2023P
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HIVEP3

NM_024503.5:p.A2023P

Associated Papers

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

El-Gazzar A et al.

Embo Molecular Medicine, 2023

36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant

Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.

Khan S et al.

Bmc Research Notes, 2021

33743798 (PubMed )
Supplement: 13104_2021_5514_MOESM4_ESM.zip › Supplementary_File_1A-1.xlsx › Supplementary_File_1A-1.exonic_

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants

Novel near-diploid ovarian cancer cell line derived from a highly aneuploid metastatic ovarian tumor.

Rozenblum E et al.

Plos One, 2017

28787462 (PubMed )
Supplement: pone.0182610.s001.xlsx › H1-Ea-La_mut

Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

Maguire SL et al.

The Journal of Pathology, 2016

27512948 (PubMed )
Supplement: PATH-240-315-s015.xlsx › Table_S2

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1

Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Ilyas M et al.

Bmc Genomics, 2015

25887915 (PubMed )
Supplement: 12864_2015_1290_MOESM7_ESM.xlsx › Sheet1

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Nasuno T et al.

Cancer Science, 2014

24219164 (PubMed )
Supplement: cas0105-0202-SD2.xlsx › TE1
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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."