Varaico: Literature-Extracted Genetic Variants

Gene:MRPS2
Variant:p.E119G
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MRPS2

NM_016034.5:p.E119G

Associated Papers

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.

Pulman J 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."