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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ITPKC

Variant:p.D236N

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ITPKC

NM_025194.3:p.D236N

hg38:chr19:40717841 G>A

Associated Papers

Potential association between ITPKC genetic variations and Hirschsprung disease.

Kim JH et al.

Molecular Biology Reports, 2017

28664405 (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."