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BMC pediatrics,
Oct 2025
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25
(1),
797
DOI: 10.1186/s12887-025-06194-3
A novel missense variant at the site of interaction between RLIM and E2 ubiquitin-conjugating enzymes causes Tønne-Kalscheuer syndrome
Siavrienė, Evelina ;
Dapkūnas, Justas ;
Maldžienė, Živilė ;
Mikštienė, Violeta ;
Petraitytė, Gunda ;
Preikšaitienė, Eglė
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