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| Additional findings health related - CNV analysis children v0.4 | LDLR | Eleanor Williams Transcript for gene LDLR was changed from None to ENST00000558518.5; NM_000527.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - CNV analysis children v0.1 | LDLR |
Eleanor Williams gene: LDLR was added gene: LDLR was added to Additional findings health related child CNVs. Sources: Expert Review Green,Expert list Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LDLR were set to Familial hypercholesterolaemia; Adult and child |
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