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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BSCL2

Variant:p.P129Fs

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BSCL2

NM_001122955.4:p.P129Fs

hg38:chr11:62705319 GG>TCC

Associated Papers

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

Araujo-Vilar D et al.

Endocrine, 2015

25367549 (PubMed )

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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."