Salpietro V 1

1. Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
2. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
3. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
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