Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.V89M
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SGCB

NM_000232.5:p.V89M

Associated Papers

Demographic, clinical, and genetic characteristics of patients with Limb-Girdle Muscular Dystrophies (LGMD): A single tertiary-center experience.

Kale MY et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025

Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.

Li C et al.

The Journal of Clinical Investigation, 2023

37317968 (PubMed )
Supplement: jci-133-168156-s148.xlsx › Table_S2__All_Scores_

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_3.XLSX › Sheet1

Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.

Yiş U et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018

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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."