Varaico: Literature-Extracted Genetic Variants

Gene:ANTXR1
Variant:p.R126_A127Splc
Back to variants list

ANTXR1

NM_032208.3:p.R126_A127Splc

Associated Papers

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

Modafferi C et al.

Journal of Medical Genetics, 2025

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

GAPO syndrome: a new syndromic cause of premature ovarian insufficiency.

Benetti-Pinto CL et al.

Climacteric : the Journal of the International Menopause Society, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."