Varaico: Literature-Extracted Genetic Variants

Gene:PLIN1
Variant:p.R171*
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PLIN1

NM_002666.5:p.R171*

Associated Papers

PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile.

Patel KA et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia.

Dron JS et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2020

32580631 (PubMed )
Supplement: atvb_atvb-2020-314168d_supp1.pdf

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
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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."