Varaico: Literature-Extracted Genetic Variants

Gene:PHKB
Variant:p.E166G
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PHKB

NM_000293.3:p.E166G

Associated Papers

p53 mitigates the effects of oncogenic HRAS in urothelial cells via the repression of MCOLN1.

Jung J et al.

Iscience, 2021

34222845 (PubMed )
Supplement: mmc6.xlsx › Supplementary_Table_5

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S13
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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."