Varaico: Literature-Extracted Genetic Variants

Gene:IPO8
Variant:p.R474*
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IPO8

NM_006390.4:p.R474*

Associated Papers

Generation of one induced pluripotent cell (iPSC) line (BBANTWi011-A) from a patient carrying an IPO8 bi-allelic loss-of-function mutation.

Van Gucht I et al.

Stem Cell Research, 2023

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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."