A Novel SIL1 Variant (p.E342K) Associated with Marinesco–Sjögren Syndrome Impairs Protein Stability and Function.
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| Title: | A Novel SIL1 Variant (p.E342K) Associated with Marinesco–Sjögren Syndrome Impairs Protein Stability and Function. |
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| Authors: | Ruggieri, Anna Giulia1,2 (AUTHOR), Marinakis, Nikolaos M.2,3,4 (AUTHOR), Amodei, Laura1,2,3 (AUTHOR), Potenza, Francesca1,2,4 (AUTHOR), Kampouraki, Afrodite3,5 (AUTHOR), Tilemis, Faidon-Nikolaos3,6 (AUTHOR), Pietrangelo, Laura5,7 (AUTHOR), Viele, Marianna1,2,8 (AUTHOR), Di Marco, Federica1,2,9 (AUTHOR), Del Boccio, Piero2,6,10 (AUTHOR), Di Cintio, Federica1,2,7 (AUTHOR), Selenti, Nikoletta2,3 (AUTHOR), Valari, Manthoula3,8 (AUTHOR), Federici, Luca1,2,4 (AUTHOR), Miele, Adriana Erica5,9,10 (AUTHOR), Sallese, Michele1,2,6 (AUTHOR) michele.sallese@unich.it, Makrythanasis, Periklis3,7 (AUTHOR) |
| Source: | International Journal of Molecular Sciences. Dec2025, Vol. 26 Issue 23, p11310. 23p. |
| Database: | Academic Search Ultimate |
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