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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.
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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  Data: A Novel SIL1 Variant (p.E342K) Associated with Marinesco–Sjögren Syndrome Impairs Protein Stability and Function.
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  Data: <searchLink fieldCode="JN" term="%22International+Journal+of+Molecular+Sciences%22">International Journal of Molecular Sciences</searchLink>. Dec2025, Vol. 26 Issue 23, p11310. 23p.
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              Text: Dec2025
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