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Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype.
Shalata A, Saada A, Mahroum M, Hadid Y, Furman C, Shalata ZE, Desnick RJ, Lorber A, Khoury A, Higazi A, Shaag A, Barash V, Spiegel R, Vlodavsky E, Rustin P, Pietrokovski S, Manov I, Gieger D, Tal G, Salzberg A, Mandel H. Shalata A, et al. Among authors: higazi a. Hum Genomics. 2025 Feb 28;19(1):21. doi: 10.1186/s40246-025-00723-y. Hum Genomics. 2025. PMID: 40022150 Free PMC article. Review.
148 results