Varaico: Literature-Extracted Genetic Variants

Gene:KRT75
Variant:p.A161T
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KRT75

NM_004693.3:p.A161T

Associated Papers

Elucidating the role of keratin 75 in enamel using Krt75tm1Der knock-in mouse model.

Deshmukh R et al.

Frontiers in Physiology, 2022

Trafficking and secretion of keratin 75 by ameloblasts in vivo.

Yang X et al.

The Journal of Biological Chemistry, 2019

Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar HS et al.

Scientific Reports, 2019

31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S001

Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.

Duverger O et al.

Plos Genetics, 2018

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Hair keratin mutations in tooth enamel increase dental decay risk.

Duverger O et al.

The Journal of Clinical Investigation, 2014

Keratin gene mutations in disorders of human skin and its appendages.

Chamcheu JC et al.

Archives of Biochemistry and Biophysics, 2011

The molecular basis of human keratin disorders.

Arin MJ

Human Genetics, 2009

Hair follicle-specific keratins and their diseases.

Schweizer J et al.

Experimental Cell Research, 2007

Keratins as components of the enamel organic matrix.

Duverger O et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 0

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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."