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Paper Details

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Hum Mutat
14
2019
C, N, NBAS, NBAS-Nter, Sec39 domains, biallelic, hepatic involvement, hypotelorism, immunodeficiency, liver involvement, neuroblastoma, neuroblastoma-amplified sequence, nonsense variants, patient, thin lips, transcript

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Release 1.2