Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.P182ins1
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BSCL2

NM_001122955.4:p.P182ins1

Associated Papers

RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients.

Huang YH et al.

Scientific Data, 2021

Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.

Xie B et al.

Molecular Medicine Reports, 2020

A New Compound Heterozygous Mutation Of BSCL2 In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy.

Qin YY et al.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 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."