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Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype
Title Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype Author Del Greco Christina Co-authors Kuo Molly E. Smith Desiree E. C. Mendes Marisa I. Salamons Gaja S. Nemčovič Marek 1973- SAVCHEM - Chemický ústav SAV Kodríková Rebeka SAVCHEM - Chemický ústav SAV Šesták Sergej 1960 SAVCHEM - Chemický ústav SAV Stancheva Malina Antonelis Anthony Source document Molecular Genetics & Genomic Medicine. Vol. 13 (2025), e70078 Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2025 DOI 10.1002/mgg3.70078 File name Access Size Downloaded Type License Loss-of-Function CARS1 Variants in a Patient With.pdf available 1.2 MB 6 Author's preprint 
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