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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCSK9

Variant:p.H449_G450del2

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PCSK9

NM_174936.4:p.H449_G450del2

hg38:chr1:55058199 CCATGGG>C

Associated Papers

Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere.

Kellermayer D et al.

The Journal of Clinical Investigation, 2024

37962957 (PubMed )

Supplement: jci-134-169753-s015.xlsx › Munka1

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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."