Phenotypic variability in female individuals with the NAA10 missense variants p.(L126R), p.(L126V), or p.(F128L) leading to NAA10-related syndrome
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Background: NAA10-related syndrome is an exceptionally rare X-linked disorder caused by variants in the N-alpha-acetyltransferase 10 (NAA10) gene. Despite its role in acetylating nearly half of the human proteome, establishing ge... ...
