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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MARK2

Variant:p.R484W

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MARK2

NM_001039469.3:p.R484W

hg38:chr11:63903094 A>T

Associated Papers

Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations.

Ricard N et al.

Blood, 2010

20501893 (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."