Varaico: Literature-Extracted Genetic Variants

Gene:TBX6
Variant:p.P374delFs
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TBX6

NM_004608.4:p.P374delFs

Associated Papers

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.

Xue H et al.

Scientific Reports, 2024

Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.

Zhao S et al.

Nature Communications, 2024

38321032 (PubMed )
Supplement: 41467_2024_45442_MOESM5_ESM.xlsx › Sheet1

TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.

Li G et al.

American Journal of Medical Genetics. Part A, 2022

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