Varaico: Literature-Extracted Genetic Variants

Gene:POR
Variant:p.K602_V603Splc
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POR

NM_001395413.1:p.K602_V603Splc

Associated Papers

Clinical and genetic analysis of cytochrome P450 oxidoreductase (POR) deficiency in a female and the analysis of a novel POR intron mutation causing alternative mRNA splicing : Overall analysis of a female with POR deficiency.

Zhang T et al.

Journal of Assisted Reproduction and Genetics, 2020

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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."