Varaico: Literature-Extracted Genetic Variants

Gene:ANTXR1
Variant:p.Q137Q
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ANTXR1

NM_032208.3:p.Q137Q

Associated Papers

GAPO syndrome: a comprehensive examination and review of 105 clinical cases.

Modafferi C et al.

Journal of Medical Genetics, 2025

PEDIA: prioritization of exome data by image analysis.

Hsieh TC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1

A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.

Dinckan N et al.

American Journal of Medical Genetics. Part A, 2018

A novel mutation at ANTXR1 in an Indian patient with growth retardation-alopecia-pseudoanodontia-optic atrophy syndrome.

Chattopadhyay E et al.

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2017

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

Bayram Y et al.

American Journal of Medical Genetics. Part A, 2014

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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."