Varaico: Literature-Extracted Genetic Variants

Gene:RPL10
Variant:p.S202N
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RPL10

NM_006013.5:p.S202N

Associated Papers

Mutational analysis of ribosomal proteins in a cohort of pediatric patients with T-cell acute lymphoblastic leukemia reveals Q123R, a novel mutation in RPL10.

Bacci L et al.

Frontiers in Genetics, 2022

Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Pandey A et al.

Nature Communications, 2020

32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM7_ESM.xlsx › Cholecystitis_Mutations

A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.

Brooks SS et al.

Genetics, 2014

Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.

Klauck SM et al.

Molecular Psychiatry, 2006

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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."