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Two Novel Biallelic Variants in the FARSA Gene: The First Italian Case and a Literature Review.

Genes - 5 Dec 2024

Lomuscio Sonia, Cocciadiferro Dario, Petrizzelli Francesco, Liorni Niccolò, Mazza Tommaso, Allegorico Annalisa, Ullmann Nicola, Novelli Giuseppe, Cutrera Renato, Novelli Antonio

Abstract excerpt

Background/Objectives: The FARSA gene encodes for the catalytic α subunit of Cytoplasmic phenylalanine-tRNA synthetase (FARS1), an essential enzyme for protein biosynthesis in transferring its amino acid component to tRNAs. Biallelic pathogenic variants have been associated with a multisystemic condition, characterized by variable expressivity and incomplete penetrance. Here, we report the case of an 11 year-old...

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PMID: 39766840
DOI: 10.3390/genes15121573

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