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| Familial non syndromic congenital heart disease v1.68 | TLL1 |
Ivone Leong Added comment: Comment on publications: PMID:10331975 is a mouse model. Homozygous mutantsw were embryonic lethal with developmental defects in the heart (incomplete formation of the interventricular septum and an abnormal and novel positioning of the heart and aorta). PMID:31570783 describes an individual with atrial septal defect with a de novo splice site variant in TLL1. However, the patient also has a variant in NODAL. |
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| Familial non syndromic congenital heart disease | NODAL | Helen Brittain marked NODAL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial non syndromic congenital heart disease | NODAL | Helen Brittain reviewed NODAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||