Summary |
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Mutation origin |
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Mutation description |
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Phenotypes |
View phenotypes and curated references for all genotypes (concatenated display).
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Disease models |
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Expression |
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Find Mice (IMSR) |
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Notes |
Summative Diagnosis:
Phenotype 1: Cardiovascular defects: Hypoplastic right heart syndrome (HRHS): Hypoplastic right ventricle (RV) with hypoplastic tricuspid valve, and hypoplastic pulmonary trunk. Phenotype 2: Cardiovascular defects: Ventricular hypertrophy. |