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| Additional findings health related - children v0.6 | PCSK9 | Eleanor Williams Transcript for gene PCSK9 was changed from None to ENST00000302118.5; NM_174936.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related - children v0.1 | PCSK9 |
Eleanor Williams gene: PCSK9 was added gene: PCSK9 was added to Additional findings health related child. Sources: Expert Review Green,Other Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PCSK9 were set to Adult and child; Familial hypercholesterolaemia Mode of pathogenicity for gene: PCSK9 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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