Varaico: Literature-Extracted Genetic Variants

Gene:ANTXR1
Variant:p.I11fs
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ANTXR1

NM_032208.3:p.I11fs

Associated Papers

Abnormal dental phenotypes in GAPO syndrome: A descriptive study with a new ANTXR1 variant & insights on teeth eruption.

El-Moataz Bellah Ahmed N et al.

The Saudi Dental Journal, 2024

Prenatal onset GAPO syndrome with a novel ANTXR1 variant in an Indian child: Expansion of the phenotype & literature review.

Balakrishnan S et al.

European Journal of Medical Genetics, 2024

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.

Abdel-Hamid MS et al.

American Journal of Medical Genetics. Part A, 2019

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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."