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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RAD54B

Variant:p.P348T

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RAD54B

NM_012415.3:p.P348T

hg38:chr8:94400366 G>T

Associated Papers

Somatic activating mutations in MAP2K1 cause melorheostosis.

Kang H et al.

Nature Communications, 2018

29643386 (PubMed )

Supplement: 41467_2018_3720_MOESM2_ESM.xlsx › WES-mutations.txt

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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."