Varaico: Literature-Extracted Genetic Variants

Gene:GZMB
Variant:p.V189L
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GZMB

NM_004131.6:p.V189L

Associated Papers

A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene.

Huang HH et al.

The Kaohsiung Journal of Medical Sciences, 2010

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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."