Varaico: Literature-Extracted Genetic Variants

Gene:AMBN
Variant:p.L354P
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AMBN

NM_016519.6:p.L354P

Associated Papers

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

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC1_ERR166303

Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients.

Mårdh CK et al.

European Journal of Oral Sciences, 2001

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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."