Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.T173insFs
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BSCL2

NM_001122955.4:p.T173insFs

Associated Papers

Host genetic susceptibility underlying SARS-CoV-2-associated Multisystem Inflammatory Syndrome in Brazilian Children.

Santos-Rebouças CB et al.

Molecular Medicine (cambridge, Mass.), 2022

Lipodystrophy for the Diabetologist-What to Look For.

Patni N et al.

Current Diabetes Reports, 2022

Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience.

Araujo-Vilar D et al.

Endocrine, 2015

Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy.

Victoria B et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2010

Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.

Miranda DM et al.

Clinical Endocrinology, 2009

The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy.

Craveiro Sarmento AS et al.

Mutation Research. Reviews in Mutation Research, 0

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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."