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Additional findings_Paediatric v0.2 | ALAS2 | Zornitza Stark Added phenotypes Anemia, sideroblastic, X-linked for gene: ALAS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Paediatric v0.0 | ALAS2 |
Zornitza Stark gene: ALAS2 was added gene: ALAS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ALAS2 were set to Anemia, sideroblastic, X-linked |