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Supplement: mmc1.xlsx › Supplementary_Table_1
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Li Y et al.
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38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Herbst C et al.
Human Genetics, 2024
The Potential Role of AMPA Receptor Trafficking in Autism and Other Neurodevelopmental Conditions.
Niescier RF et al.
Neuroscience, 2021
Two Autism/Dyslexia Linked Variations of DOCK4 Disrupt the Gene Function on Rac1/Rap1 Activation, Neurite Outgrowth, and Synapse Development.
Huang M et al.
Frontiers in Cellular Neuroscience, 2019
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