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Showing 1 to 1 of 1 for “"RBM10"”.
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Identificazione di una variante missenso nel gene RBM10 in una famiglia sarda con disabilità intellettiva X-linked
… located within a highly conserved domain in the RBM10 gene at Xp11.23. Sanger sequencing confirmed the presence of the variant in affected males and in their mothers. The variant was not present in non affected male family members, has not been reported in variant databases and is disease-causing …