Varaico: Literature-Extracted Genetic Variants

Gene:RMP64
Variant:p.L145F
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RMP64

NM_015412.4:p.L145F

Associated Papers

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

Smith EM et al.

Nature Structural & Molecular Biology, 2026

Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.

Remmelzwaal PC et al.

American Journal of Medical Genetics. Part A, 2023

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.

Narayanan DL et al.

American Journal of Medical Genetics. Part A, 2019

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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."