Varaico: Literature-Extracted Genetic Variants

Gene:ENAM
Variant:p.L31R
Back to variants list

ENAM

NM_031889.3:p.L31R

Associated Papers

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

A novel ENAM mutation causes hypoplastic amelogenesis imperfecta.

Yu S et al.

Oral Diseases, 2022

ENAM mutations and digenic inheritance.

Zhang H et al.

Molecular Genetics & Genomic Medicine, 2019

31478359 (PubMed )
Supplement: MGG3-7-e00928-s001.pdf

Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.

Koruyucu M et al.

Journal of Dental Research, 2018

29554435 (PubMed )
Supplement: ds_10.1177_0022034518763152.pdf

Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress.

Brookes SJ et al.

Human Molecular Genetics, 2017

Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

Smith CEL et al.

Frontiers in Physiology, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."