Varaico: Literature-Extracted Genetic Variants

Gene:SMOC2
Variant:p.T28_F29Splc
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SMOC2

NM_001166412.2:p.T28_F29Splc

Associated Papers

Progress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.

Xue Q et al.

Frontiers in Cell and Developmental Biology, 2024

Type I Dentin Dysplasia: The Literature Review and Case Report of a Family Affected by Misrecognition and Late Diagnosis.

Putrino A et al.

Medicina (kaunas, Lithuania), 2023

Orthodontic Treatment of a Patient with Dentin Dysplasia Type I and Bilateral Maxillary Canine Impaction: Case Presentation and a Family-Based Genetic Analysis.

Papagiannis A et al.

Children (basel, Switzerland), 2021

Dentin dysplasia type I-A dental disease with genetic heterogeneity.

Chen D et al.

Oral Diseases, 2019

Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.

Alfawaz S et al.

Archives of Oral Biology, 2013

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.

Bloch-Zupan A et al.

American Journal of Human Genetics, 2011

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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."