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Introducing a novel homozygote TRAPPC10 mutation as a potential cause of developmental delay and intellectual disability in an Iranian family

2024-10-22

Abstract excerpt

<title>Abstract</title> <p>Background TRAPP complexes are crucial components for intracellular transport and cellular organization. Their role in vesicle trafficking, particularly through their involvement in the secretory pathway, make them more important in neurodevelopmental mechanisms. This study aims to identify a novel genetic variant, associated with developmental delay and intellectual disability by anal...

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Literature Corpus work
60c4a729-5f26-55fd-b605-8b3bb1a926ff
DOI
10.21203/rs.3.rs-5054100/v1
Open publication

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Introducing a novel homozygote TRAPPC10 mutation as a potential cause of developmental delay and intellectual disability in an Iranian familyDOI 10.21203/rs.3.rs-5054100/v1
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