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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBXAS1

Variant:p.F195delFs

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TBXAS1

NM_001061.7:p.F195delFs

hg38:chr7:139955501 CTT>C

Associated Papers

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

Kim SY et al.

Molecular Genetics & Genomic Medicine, 2021

33595912 (PubMed )

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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."