Varaico: Literature-Extracted Genetic Variants

Gene:TBX6
Variant:p.G52delFs
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TBX6

NM_004608.4:p.G52delFs

Associated Papers

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.

Liu J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.

Takeda K et al.

Human Mutation, 2017

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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."