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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AGPAT2

Variant:p.S208fs

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AGPAT2

NM_006412.4:p.S208fs

hg38:chr9:136674774 GGA>N

Associated Papers

Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants.

Liu Y et al.

European Journal of Medical Genetics, 2019

30266686 (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."