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Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.

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Title: Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.
Authors: Mikhalchuk, Kristina1 (AUTHOR) grstina@yandex.ru, Zabnenkova, Viktoria1 (AUTHOR), Braslavskaya, Svetlana1 (AUTHOR), Chukhrova, Alena1 (AUTHOR), Ryadninskaya, Nina1 (AUTHOR), Dadaly, Elena1 (AUTHOR), Rudenskaya, Galina1 (AUTHOR), Sharkova, Inna1 (AUTHOR), Anisimova, Inga1 (AUTHOR), Bessonova, Ludmila1 (AUTHOR), Mishina, Irina1 (AUTHOR), Repina, Svetlana1 (AUTHOR), Petukhova, Marina1 (AUTHOR), Sparber, Peter1 (AUTHOR), Kuchina, Anna1 (AUTHOR), Saushev, Dmitry1 (AUTHOR), Artemieva, Svetlana2 (AUTHOR), Kurbatov, Sergey3,4 (AUTHOR), Kanivets, Ilya5,6 (AUTHOR), Zarubina, Vera7 (AUTHOR)
Source: Clinical Genetics. Jul2025, Vol. 108 Issue 1, p58-68. 11p.
Database: Academic Search Ultimate
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Description
ISSN:00099163
DOI:10.1111/cge.14714