Varaico: Literature-Extracted Genetic Variants

Gene:ANTXR2
Variant:p.L330R
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ANTXR2

NM_058172.6:p.L330R

Associated Papers

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

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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."