Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.R135Splc
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BSCL2

NM_001122955.4:p.R135Splc

Associated Papers

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s005.xlsx › Sheet2

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.

Rahman OU et al.

Diagnostic Pathology, 2013

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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."