Varaico: Literature-Extracted Genetic Variants

Gene:POP1
Variant:p.R211Q
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POP1

NM_001145860.2:p.R211Q

Associated Papers

The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.

Abdulhadi-Atwan M et al.

American Journal of Medical Genetics. Part A, 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."