Varaico: Literature-Extracted Genetic Variants

Gene:SELP
Variant:p.S331N
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SELP

NM_003005.4:p.S331N

Associated Papers

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.

Lunghi B et al.

International Journal of Molecular Sciences, 2023

37762110 (PubMed )
Supplement: ijms-24-13809-s001.zip › Table_S2.xlsx › Foglio1

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc8.xlsx › BrM167

Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.

Monticelli M et al.

European Journal of Medical Genetics, 2021

33872774 (PubMed )
Supplement: mmc2.xlsx › Foglio1

Role of platelet gene polymorphisms in ischemic pediatric stroke subtypes: a case-control study.

Čeri A et al.

Croatian Medical Journal, 2020

Development and validation of a rapid method for genotyping three P-selectin gene polymorphisms based on high resolution melting analysis.

Ceri A et al.

Journal of Clinical Laboratory Analysis, 2019

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

Pharmacogenetic Variation in Over 100 Genes in Patients Receiving Acenocumarol.

Gonzalez-Covarrubias V et al.

Frontiers in Pharmacology, 2017

29218011 (PubMed )
Supplement: Table1.XLSX › ST1_targetgenes

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

Influences on plasminogen activator inhibitor-2 polymorphism-associated recurrent cardiovascular disease risk in patients with high HDL cholesterol and inflammation.

Corsetti JP et al.

Atherosclerosis, 2016

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

Candidate gene polymorphisms and the risk for pregnancy-related venous thrombosis.

Dahm AE et al.

British Journal of Haematology, 2012

Innate immunity and non-Hodgkin's lymphoma (NHL) related genes in a nested case-control study for gastric cancer risk.

Park SK et al.

Plos One, 2012

23028900 (PubMed )
Supplement: pone.0045274.s001.xlsx › Innate

Evaluation of variants in the selectin genes in age-related macular degeneration.

Mullins RF et al.

Bmc Medical Genetics, 2011

Genetics and pathophysiology of arterial stiffness.

Lacolley P et al.

Cardiovascular Research, 2009

Genetic variants in P-selectin and C-reactive protein influence susceptibility to cognitive decline after cardiac surgery.

Mathew JP et al.

Journal of the American College of Cardiology, 2007

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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."