Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.Q94*
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BSCL2

NM_001122955.4:p.Q94*

Associated Papers

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.

Molaei N et al.

Scientific Reports, 2025

41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.

Akinci B et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

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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."