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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRTFA

Variant:p.L459R

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MRTFA

NM_020831.6:p.L459R

hg38:chr22:40419362 A>C

Associated Papers

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.

Johnson B et al.

Haematologica, 2016

27479822 (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."