Varaico: Literature-Extracted Genetic Variants

Gene:MTX1
Variant:p.S63T
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MTX1

NM_002455.5:p.S63T

Associated Papers

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

Integration of risk variants from GWAS with SARS-CoV-2 RNA interactome prioritizes FUBP1 and RAB2A as risk genes for COVID-19.

Shi W et al.

Scientific Reports, 2023

37932299 (PubMed )
Supplement: 41598_2023_44705_MOESM1_ESM.zip › Supplementary_Table_S1.xlsx › C2

Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.

Rajeh A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808834 (PubMed )
Supplement: media-2.xlsx › pnSomatic_supplement_tableS2

Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.

Sather CL et al.

Cancer Medicine, 2023

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S11.HighCovVariantsSurvPanel

Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.

Magallón-Lorenz M et al.

Iscience, 2023

36818284 (PubMed )
Supplement: mmc2.xlsx › HS-PSS

Synchronized early gastric cancer occurred in a patient with serrated polyposis syndrome: A case report.

Ning YZ et al.

World Journal of Clinical Cases, 2022

Pleiotropic Effects of Functional MUC1 Variants on Cardiometabolic, Renal, and Hematological Traits in the Taiwanese Population.

Teng MS et al.

International Journal of Molecular Sciences, 2021

Exploring the Genotype-Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers.

Menozzi E et al.

Frontiers in Neurology, 2021

Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood.

Olafsson S et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020

Glucocerebrosidase and its relevance to Parkinson disease.

Do J et al.

Molecular Neurodegeneration, 2019

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

Graham SE et al.

Nature Communications, 2019

31015462 (PubMed )
Supplement: 41467_2019_9861_MOESM1_ESM.pdf

Genome-Wide Association of Genetic Variation in the PSCA Gene with Gastric Cancer Susceptibility in a Korean Population.

Park B et al.

Cancer Research and Treatment, 2019

Olfactory identification in LRRK2 G2019S mutation carriers: a relevant marker?

Saunders-Pullman R et al.

Annals of Clinical and Translational Neurology, 2014

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN et al.

Human Genetics, 2013

The age at motor symptoms onset in LRRK2-associated Parkinson's disease is affected by a variation in the MAPT locus: a possible interaction.

Gan-Or Z et al.

Journal of Molecular Neuroscience : Mn, 2012

Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease.

Gan-Or Z et al.

Neurogenetics, 2011

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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."