Varaico: Literature-Extracted Genetic Variants

Gene:AGPAT2
Variant:p.N212delFs
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AGPAT2

NM_006412.4:p.N212delFs

Associated Papers

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.

Haghighi A et al.

Clinical Genetics, 2016

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.

Rahman OU et al.

Diagnostic Pathology, 2013

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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."