A Recurrent Rare SOX9 Variant (M469V) is Associated with Congenital Vertebral Malformations.
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DOI: 10.2174/1566523219666190924120307
Abstract: OBJECTIVE The genetic variations contributed to a substantial proportion of congenital vertebral malformations (CVMs). SOX9 gene, a member of the Sox gene family, have been implicated in CVM. To study the SOX9 mutation in CVM… read more here.
Keywords: m469v; congenital vertebral; variant; sox9 ... See more keywords