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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNH1

Variant:p.C357Y

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KCNH1

NM_002238.4:p.C357Y

hg38:chr1:210919951 C>T

Associated Papers

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

Bramswig NC et al.

Human Genetics, 2015

26264464 (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."