Varaico: Literature-Extracted Genetic Variants

Gene:RPL5
Variant:p.M1T
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RPL5

NM_000969.5:p.M1T

Associated Papers

GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease.

van Dooijeweert B et al.

Genes, 2022

Cancer-associated mutations in the ribosomal protein L5 gene dysregulate the HDM2/p53-mediated ribosome biogenesis checkpoint.

Oršolić I et al.

Oncogene, 2020

GATA1 mutations in red cell disorders.

Ling T et al.

Iubmb Life, 2020

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.

Parrella S et al.

Pediatric Blood & Cancer, 2014

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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."