Varaico: Literature-Extracted Genetic Variants

Gene:SRCAP
Variant:p.E2648_S2649insCA
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SRCAP

NM_006662.3:p.E2648_S2649insCA

Associated Papers

Severe developmental expressive language disorder due to a frameshift mutation in exon 18 of SRCAP gene, far away from the mutational hotspot in exons 33 and 34 associated to the Floating-Harbor syndrome.

Nogueira E et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."