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Additional findings_Paediatric v0.2 ACTN1 Zornitza Stark Added phenotypes Macrothrombocytopenia for gene: ACTN1
Additional findings_Paediatric v0.0 ACTN1 Zornitza Stark gene: ACTN1 was added
gene: ACTN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTN1 were set to Macrothrombocytopenia