Varaico: Literature-Extracted Genetic Variants

Gene:VPS4B
Variant:p.G264Splc
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VPS4B

NM_004869.4:p.G264Splc

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

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index

Adding Some "Splice" to Stress Eating: Autophagy, ESCRT and Alternative Splicing Orchestrate the Cellular Stress Response.

Habib E et al.

Genes, 2021

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

VPS4B mutation impairs the osteogenic differentiation of dental follicle cells derived from a patient with dentin dysplasia type I.

Li Q et al.

International Journal of Oral Science, 2020

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

Chen D et al.

Oral Diseases, 2019

Vps4b heterozygous mice do not develop tooth defects that replicate human dentin dysplasia I.

Hu A et al.

Bmc Genetics, 2019

A splicing mutation in VPS4B causes dentin dysplasia I.

Yang Q 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."