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| Additional findings_Paediatric v0.2 | SMPD1 | Zornitza Stark Added phenotypes Niemann-Pick disease, type B for gene: SMPD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | SMPD1 |
Zornitza Stark gene: SMPD1 was added gene: SMPD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A |
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