Varaico: Literature-Extracted Genetic Variants

Gene:TBX4
Variant:p.R94Splc
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TBX4

NM_001321120.2:p.R94Splc

Associated Papers

Generation of 5 hiPSC lines from pediatric patients with Heritable pulmonary arterial hypertension (HPAH) caused by heterozygous mutations in the TBX4 gene.

Fernandez Vallone V et al.

Stem Cell Research, 2026

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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."