Varaico: Literature-Extracted Genetic Variants

Gene:FBXL3
Variant:p.C358R
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FBXL3

NM_012158.4:p.C358R

Associated Papers

The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins.

Lavie J et al.

Cell Reports, 2023

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.

Ansar M et al.

Human Molecular Genetics, 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."