Varaico: Literature-Extracted Genetic Variants

Gene:POP1
Variant:p.R150L
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POP1

NM_001145860.2:p.R150L

Associated Papers

Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene.

Michelson M et al.

Clinical Genetics, 2024

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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."