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| BabyScreen+ newborn screening v0.0 | EFHC1 |
Zornitza Stark gene: EFHC1 was added gene: EFHC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene Mode of inheritance for gene: EFHC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EFHC1 were set to 33181902; 28370826; 33969125; 29750216; 31056551 Phenotypes for gene: EFHC1 were set to {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770; {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 |
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