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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCTD3

Variant:p.P346delFs

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KCTD3

NM_016121.5:p.P346delFs

hg38:chr1:215602097 TCC>T

Associated Papers

Phenotypic characterization of KCTD3-related developmental epileptic encephalopathy.

Faqeih EA et al.

Clinical Genetics, 2018

29406573 (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."