Varaico: Literature-Extracted Genetic Variants

Gene:KRT81
Variant:p.G52R
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KRT81

NM_002281.4:p.G52R

Associated Papers

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

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

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).

Riedhammer KM et al.

Kidney International, 2024

38154558 (PubMed )
Supplement: mmc2.xlsx › Family_1

Gene detection in a family with monilethrix and treatment with 5% topical minoxidil.

Shen Q et al.

Skin Research and Technology : Official Journal of International Society for Bioengineering and the Skin (isbs) [and] International Society for Digital Imaging of Skin (isdis) [and] International Society for Skin Imaging (issi), 2023

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Demonstration of Protein-Based Human Identification Using the Hair Shaft Proteome.

Parker GJ et al.

Plos One, 2016

27603779 (PubMed )
Supplement: pone.0160653.s004.pdf

Monilethrix: A New Family with the Novel Mutation in KRT81 Gene.

Ferrando J et al.

International Journal of Trichology, 2012

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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."