Varaico: Literature-Extracted Genetic Variants

Gene:ANTXR2
Variant:p.S52F
Back to variants list

ANTXR2

NM_058172.6:p.S52F

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

Molecular Effects of Mutations in Human Genetic Diseases.

Leonardi E et al.

International Journal of Molecular Sciences, 2022

Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy.

van Rijn JM et al.

International Journal of Molecular Sciences, 2020

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."