Varaico: Literature-Extracted Genetic Variants

Gene:ANTXR2
Variant:p.L93fs
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ANTXR2

NM_058172.6:p.L93fs

Associated Papers

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

Haidar Z et al.

Bmc Genetics, 2017

Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among "Malis (Farmers)" in Jodhpur.

Soni JP et al.

Indian Journal of Pediatrics, 2016

Infantile systemic hyalinosis in identical twins.

Koonuru MK et al.

Intractable & Rare Diseases Research, 2015

Identical Twins with Infantile Systemic Hyalinosis: Case study and review of literature.

Aggarwal ML et al.

Journal of Orthopaedic Case Reports, 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."