Varaico: Literature-Extracted Genetic Variants

Gene:KRT82
Variant:p.R47*
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KRT82

NM_033033.4:p.R47*

Associated Papers

Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.

Airoldi M et al.

Biomolecules, 2025

Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of MUC5B.

Costain G et al.

American Journal of Respiratory and Critical Care Medicine, 2022

Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82.

Erjavec SO et al.

Nature Communications, 2022

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.

Wu Y et al.

Frontiers in Genetics, 2021

34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-5.xlsx › S_Data_4
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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."