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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPS34

Variant:p.L68P

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MRPS34

NM_023936.2:p.L68P

hg38:chr16:1772917 A>G

Associated Papers

The Diseased Mitoribosome.

Ferrari A et al.

Febs Letters, 2021

33314036 (PubMed )

Mutation in MRPS34 compromises protein synthesis and causes mitochondrial dysfunction.

Richman TR et al.

Plos Genetics, 2015

25816300 (PubMed )

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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."