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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTSS1

Variant:p.F54F

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MTSS1

NM_014751.6:p.F54F

hg38:chr8:124699572 G>A

Associated Papers

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.

Bonafé L et al.

Plos Genetics, 2005

16244706 (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."