Capela, Joana, Mariana Reis, Inês Almeida, Marta Novo, Ana Ramalho, Patrícia Lipari, and Márcia Rodrigues. 2026. “A Novel Combination of Biallelic Variants in the VARS2 Gene: A Severe Phenotype”. Acta Médica Portuguesa, May. Lisbon, Portugal. https://doi.org/10.20344/amp.23831.