Varaico: Literature-Extracted Genetic Variants

Gene:PSMC3IP
Variant:p.P217del1
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PSMC3IP

NM_016556.4:p.P217del1

Associated Papers

XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.

Zangen D et al.

American Journal of Human Genetics, 2011

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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."