Varaico: Literature-Extracted Genetic Variants

Gene:ANTXR1
Variant:p.G105D
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ANTXR1

NM_032208.3:p.G105D

Associated Papers

Investigating the Influence of ANTXR2 Gene Mutations on Protective Antigen Binding for Heightened Anthrax Resistance.

Archana CA et al.

Genes, 2024

Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.

Casas-Alba D et al.

Human Mutation, 2018

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.

Haidar Z et al.

Bmc Genetics, 2017

Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum.

Deuquet J et al.

Human Mutation, 2009

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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."