Matt Osmond
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View article: Macrocephaly and developmental delay caused by missense variants in RAB5C
Macrocephaly and developmental delay caused by missense variants in RAB5C Open
Rab GTPases are important regulators of intracellular vesicular trafficking. RAB5C is a member of the Rab GTPase family that plays an important role in the endocytic pathway, membrane protein recycling and signaling. Here we report on 12 i…