Varaico: Literature-Extracted Genetic Variants

Gene:TCHH
Variant:p.L790M
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TCHH

NM_007113.4:p.L790M

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Deimination in epidermal barrier and hair formation.

Méchin MC et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023

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: mmc3.xlsx › BrM167

Comparison of Genome-Wide Association Scans for Quantitative and Observational Measures of Human Hair Curvature.

Ho YYW et al.

Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2020

Genomic characterization of Chinese ovarian clear cell carcinoma identifies driver genes by whole exome sequencing.

Yang Q et al.

Neoplasia (new York, N.y.), 2020

Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases.

Méchin MC et al.

International Journal of Molecular Sciences, 2020

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

Common variants in the trichohyalin gene are associated with straight hair in Europeans.

Medland SE et al.

American Journal of Human Genetics, 2009

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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."