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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEKHG2

Variant:p.E483Splc

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PLEKHG2

NM_022835.3:p.E483Splc

hg38:chr19:39421073 A>C

Associated Papers

National Rapid Genome Sequencing in Neonatal Intensive Care.

Marom D et al.

Jama Network Open, 2024

38386321 (PubMed )

Supplement: jamanetwopen-e240146-s002.xlsx › eTable_2

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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."