Varaico: Literature-Extracted Genetic Variants

Gene:POP1
Variant:p.P582S
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POP1

NM_001145860.2:p.P582S

Associated Papers

RNase MRP subunit composition and role in 40S ribosome biogenesis.

Smith EM et al.

Nature Structural & Molecular Biology, 2026

[Skeletal dysplasia].

Romano Medina A et al.

Medicina Clinica, 2024

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.

Barraza-García J et al.

Clinical Genetics, 2017

Further evidence of POP1 mutations as the cause of anauxetic dysplasia.

Elalaoui SC et al.

American Journal of Medical Genetics. Part A, 2016

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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."