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Dwight K. C. Yim

Kaiser Permanente

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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

2018 bioRxiv
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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

2018 PLOS Genetics
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Refinement of the Smith–Magenis syndrome critical region to ∼950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

2003 Molecular Genetics and Metabolism
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