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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCLY

Variant:p.L216L

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SCLY

NM_016510.7:p.L216L

hg38:chr2:238082078 C>T

Associated Papers

GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.

Takasaki K et al.

Advances in Experimental Medicine and Biology, 2024

39017848 (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."