Varaico: Literature-Extracted Genetic Variants

Gene:PLIN1
Variant:p.P439fs
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PLIN1

NM_002666.5:p.P439fs

Associated Papers

PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile.

Patel KA et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy.

Jéru I et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

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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."