Varaico: Literature-Extracted Genetic Variants

Gene:LPCAT1
Variant:p.Q202_I203Splc
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LPCAT1

NM_024830.5:p.Q202_I203Splc

Associated Papers

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.

Agarwal AK et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

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

Agarwal AK et al.

Nature Genetics, 2002

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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."