Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.L155_T156delFs
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BSCL2

NM_001122955.4:p.L155_T156delFs

Associated Papers

Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year

Özalkak Ş et al.

Journal of Clinical Research in Pediatric Endocrinology, 2023

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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."