Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.L287delFs
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SGCB

NM_000232.5:p.L287delFs

Associated Papers

The utility of whole-exome sequencing in accurate diagnosis of neuromuscular disorders in consanguineous families in Jordan.

Ababneh NA et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

Generation of an induced pluripotent stem cell (iPSC) line (JUCTCi017-A) from a patient with limb-girdle muscular dystrophy (LGMD) due to a homozygous p.Lue287Ser fs14* mutation in the SGCB gene.

Ababneh NA et al.

Stem Cell Research, 2021

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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."