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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTTNBP2

Variant:p.E791K

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CTTNBP2

NM_033427.3:p.E791K

hg38:chr7:117782863 C>T

Associated Papers

Identification of MYLK3 mutations in familial dilated cardiomyopathy.

Tobita T et al.

Scientific Reports, 2017

29235529 (PubMed )

Supplement: 41598_2017_17769_MOESM1_ESM.pdf

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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."