Varaico: Literature-Extracted Genetic Variants

Gene:KLK4
Variant:p.L211delFs
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KLK4

NM_004917.5:p.L211delFs

Associated Papers

Complexity of Inheritance of Pathogenic Mutations Associated with Epilepsy in Consanguine Families from Pakistan.

Tahira K et al.

Genes, 2026

Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.

Hany U et al.

Human Mutation, 2025

Novel KLK4 Mutations Cause Hypomaturation Amelogenesis Imperfecta.

Lee Y et al.

Journal of Personalized Medicine, 2022

A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities.

Smith CEL et al.

Frontiers in Physiology, 2017

Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

Smith CEL et al.

Frontiers in Physiology, 2017

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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."