Varaico: Literature-Extracted Genetic Variants

Gene:AMBN
Variant:p.S70*
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AMBN

NM_016519.6:p.S70*

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

Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes.

Hany U et al.

Journal of Dental Research, 2024

The Quebec Dental Anomalies Registry: Identifying genes for rare disorders.

Wredenhagen MS et al.

Pnas Nexus, 2023

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

Bloch-Zupan A et al.

Frontiers in Physiology, 2023

TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.

da Silva EM et al.

Npj Breast Cancer, 2021

33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.pdf

The genomic landscape of pediatric Ewing sarcoma.

Crompton BD et al.

Cancer Discovery, 2014

25186949 (PubMed )
Supplement: 21598290cd131037-sup-124608_2_supp_2613704_ndcnpj.xlsx › Mutation_List_PoN
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