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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AGPAT4

Variant:p.V222Splc

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AGPAT4

NM_020133.3:p.V222Splc

hg38:chr6:161149291 T>G

Associated Papers

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

Agarwal AK et al.

Nature Genetics, 2002

11967537 (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."