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| Additional findings_Paediatric v0.2 | VLDLR |
Zornitza Stark gene: VLDLR was added gene: VLDLR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 |
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| Additional findings_Paediatric v0.2 | LDLR |
Zornitza Stark gene: LDLR was added gene: LDLR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LDLR were set to Hypercholesterolemia |
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