Varaico: Literature-Extracted Genetic Variants

Gene:NR1H2
Variant:p.K239K
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NR1H2

NM_007121.7:p.K239K

Associated Papers

Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS.

Horibata K et al.

Journal of Human Genetics, 2015

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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."