Varaico: Literature-Extracted Genetic Variants

Gene:KLLN
Variant:p.T113_G114delFs
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KLLN

NM_001126049.2:p.T113_G114delFs

Associated Papers

Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.

Horbacz M et al.

Frontiers in Medicine, 2025

41210864 (PubMed )
Supplement: Table_4.XLSX › Supplementary_Table_4

NTHL1 is a recessive cancer susceptibility gene.

Nurmi AK et al.

Scientific Reports, 2023

38036545 (PubMed )
Supplement: 41598_2023_47441_MOESM1_ESM.pdf

Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.

Sangiorgi E et al.

Genes, 2023

38002998 (PubMed )
Supplement: genes-14-02055-s001.zip › SupplementaryTable2.xlsx › Foglio1

Analysis of KLLN as a high-penetrance breast cancer predisposition gene.

Thompson ER et al.

Breast Cancer Research and Treatment, 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."