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Recurrent “outsider” Intronic Variation in the SLC5A6 Gene Causes Severe Mixed Axonal and Demyelinating Neuropathy, Cyclic Vomiting and Optic Atrophy in 3 Families from Maghreb

Lamisse Mansour-Hendili,Cyril Gitiaux,Madeleine Harion, Celine Latouche,Benedicte Heron,Tanya Stojkovic,Melanie Rama,Thomas Smol,Anne Sophie Jourdain,Karine Mention,Yann Nadjar,Manuel Schiff,Julie Lemale,Jamal Ghoumid,Frederic Gottrand,Cecile Talbotec,Agnes Rotig,Benoit Funalot,Isabelle Desguerre

FRONTIERS IN GENETICS（2024）

引用 1|浏览39
关键词
multivitamin deficiency,intronic variation,splicing,recurrent,mixed neuropathy,optic atrophy
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