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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

Fig. 3

a The DYRK1A coding sequence with the 5 reported splice site mutations. b The DYRK1A protein with the missense and nonsense mutations shown above, and the frameshift variants indicated below. The nuclear localization signal shown in red, the DYRK homology (DH) box shown in purple, the kinase domain shown in blue, and the speckle-targeting signal shown in green. Two mutations were identified in multiple individuals: p.Arg205* in 4 individuals and p.Glu208Asnfs*3 in 2 individuals

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BMC Medical Genetics

ISSN: 1471-2350

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