학술논문
Further evidence for distinct traits associated with RBM10 missense variants.
Document Type
Article
Author
Source
Subject
*MISSENSE mutation
*SINGLE nucleotide polymorphisms
*FRAMESHIFT mutation
*VENA cava superior
*GENETIC variation
*DYSPLASIA
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*
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Language
ISSN
0009-9163
Abstract
A case of a missense RBM10 variant in an adult with mild to moderate intellectual disability. Now, with two reported cases, distinct phenotypic traits unique to I RBM10 i missense variants, in addition to intellectual disability, remain to be clarified. [Extracted from the article]