Varaico: Literature-Extracted Genetic Variants

Gene:TBXAS1
Variant:p.V482L
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TBXAS1

NM_001061.7:p.V482L

Associated Papers

Middle-aged women with hematodiaphyseal dysplasia: Ghosal syndrome: Case report.

Ravikumar DB et al.

Radiology Case Reports, 2024

Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids.

Kim SY et al.

Molecular Genetics & Genomic Medicine, 2021

Ghosal Type Hematodiaphyseal Dysplasia.

Jeevan A et al.

Indian Pediatrics, 2016

Pyle metaphyseal dysplasia.

Gupta N et al.

Indian Pediatrics, 2008

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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."