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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNTNAP2

Variant:p.V885delFs

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CNTNAP2

NM_014141.6:p.V885delFs

hg38:chr7:148147586 CG>C

Associated Papers

Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal.

Barcia G et al.

European Journal of Medical Genetics, 2024

39423951 (PubMed )

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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."