Associated Papers
Genetic aspects of congenital heart disease in heterotaxy syndrome.
Ahmad Rafie NN et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2025
Targeted Re-Sequencing of Neural Tube Defects Patients and Families Identifies Rare Variants in Genes Candidate From Animal Models.
Romano F et al.
Birth Defects Research, 2025
Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia.
Zhu H et al.
Genome Research, 2025
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.
Wong S et al.
Embo Molecular Medicine, 2023
37066513 (PubMed )
Supplement: EMMM-15-e17078-s005.xlsx › Hets
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.
Tariq M et al.
Genome Biology, 2011
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