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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NKX2-5

Variant:p.L153_E154delFs

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NKX2-5

NM_004387.4:p.L153_E154delFs

hg38:chr5:173233081 GCTCCA>G

Associated Papers

Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report.

Wu RH et al.

Journal of Medical Case Reports, 2018

29361989 (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."