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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNTNAP1

Variant:p.H318Q

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CNTNAP1

NM_003632.3:p.H318Q

hg38:chr17:42686956 T>A

Associated Papers

Molecular genetic dissection of mouse unconventional myosin-VA: head region mutations.

Huang JD et al.

Genetics, 1998

9560408 (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."