Varaico: Literature-Extracted Genetic Variants

Gene:TCHH
Variant:p.Q331*
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TCHH

NM_007113.4:p.Q331*

Associated Papers

Deimination in epidermal barrier and hair formation.

Méchin MC et al.

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

Uncombable hair syndrome and beyond.

Alsabbagh MM

Acta Dermatovenerologica Alpina, Pannonica, Et Adriatica, 2022

Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status.

Smieszek SP et al.

Scientific Reports, 2020

Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases.

Méchin MC et al.

International Journal of Molecular Sciences, 2020

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.

Ü Basmanav FB et al.

American Journal of Human Genetics, 2016

[Association of an uncombable hair syndrome and Wilson's disease].

Gonin J et al.

Annales De Pediatrie, 1984

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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."