Varaico: Literature-Extracted Genetic Variants

Gene:POP4
Variant:p.Q52H
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POP4

NM_006627.3:p.Q52H

Associated Papers

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.

Thiel CT et al.

American Journal of Human Genetics, 2007

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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."