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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAPRE3

Variant:p.N168S

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MAPRE3

NM_012326.4:p.N168S

hg38:chr2:27025616 A>G

Associated Papers

A disease associated mutant reveals how Ltv1 orchestrates RP assembly and rRNA folding of the small ribosomal subunit head.

Blomqvist EK et al.

Plos Genetics, 2023

37910572 (PubMed )

Supplement: pgen.1010862.s012.docx

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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."