Varaico: Literature-Extracted Genetic Variants

Gene:ANTXR2
Variant:p.V386F
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ANTXR2

NM_058172.6:p.V386F

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

Ligand Binding to the Collagen VI Receptor Triggers a Talin-to-RhoA Switch that Regulates Receptor Endocytosis.

Bürgi J et al.

Developmental Cell, 2020

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

Casas-Alba D et al.

Human Mutation, 2018

CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome.

Bürgi J et al.

Nature Communications, 2017

28604699 (PubMed )
Supplement: ncomms15861-s1.pdf

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

Haidar Z et al.

Bmc Genetics, 2017

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.

Denadai R et al.

American Journal of Medical Genetics. Part A, 2012

The dark sides of capillary morphogenesis gene 2.

Deuquet J et al.

The Embo Journal, 2012

Periodontal treatment of two siblings with juvenile hyaline fibromatosis.

Hakki SS et al.

Journal of Clinical Periodontology, 2005

Multiple Scalp Tumors in Juvenile Hyaline Fibromatosis with Antxr-2 Mutation in a Family.

Mendiratta V et al.

Indian Journal of Dermatology, 0

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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."