Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.N243T
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TBX4

NM_001321120.2:p.N243T

Associated Papers

Decreased Level of TMEM100 in Neonates With Lethal Lung Developmental Disorders due to Abnormalities in SHH-FOXF1 and TBX4-FGF10 Signaling Pathways.

Bzdęga K et al.

American Journal of Medical Genetics. Part A, 2025

The Glu86 Residue in TBX4 Proves Critical for Human Lung Development.

Szafranski P et al.

American Journal of Medical Genetics. Part A, 2025

Diminished TMEM100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report.

Szafranski P et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 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."