Varaico: Literature-Extracted Genetic Variants

Gene:AMBN
Variant:p.E177_L178Splc
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AMBN

NM_016519.6:p.E177_L178Splc

Associated Papers

Molecular-based phenotype variations in amelogenesis imperfecta.

Dong J et al.

Oral Diseases, 2023

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Bloch-Zupan A et al.

Frontiers in Physiology, 2023

An Evolutionarily Conserved Helix Mediates Ameloblastin-Cell Interaction.

Su J et al.

Journal of Dental Research, 2020

AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout-NLS-lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue-specificity.

Liang T et al.

Molecular Genetics & Genomic Medicine, 2019

Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders.

Lu T et al.

International Journal of Oral Science, 2018

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

Prasad MK et al.

Journal of Medical Genetics, 2016

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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."