Varaico: Literature-Extracted Genetic Variants

Gene:ANTXR2
Variant:p.E233*
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ANTXR2

NM_058172.6:p.E233*

Associated Papers

Hyaline fibromatosis syndrome with a novel 4.41-kb deletion in ANTXR2 gene: A case report and literature review.

Zhu Y et al.

Molecular Genetics & Genomic Medicine, 2022

35726349 (PubMed )
Supplement: MGG3-10-e1993-s001.docx

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

Casas-Alba D et al.

Human Mutation, 2018

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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."