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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLIN1

Variant:p.R329*

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PLIN1

NM_002666.5:p.R329*

hg38:chr15:89667160 G>A

Associated Papers

PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile.

Patel KA et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

35235652 (PubMed )

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.

Laver TW et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

30020498 (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."