Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.F175fs
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SGCG

NM_000231.3:p.F175fs

Associated Papers

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing.

Rahmuni Y et al.

Molecular Genetics & Genomic Medicine, 2026

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.

Westra D et al.

Journal of Neuromuscular Diseases, 2019

31127727 (PubMed )
Supplement: sj-xlsx-1-jnd-10.3233_jnd-180376.xlsx › Blad1

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Cotta A et al.

Arquivos De Neuro-psiquiatria, 2014

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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."