Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.N287S
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SGCG

NM_000231.3:p.N287S

Associated Papers

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_S6__D_and_G_

Association of HLA-B Gene Polymorphisms with Type 2 Diabetes in Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan.

Jan A et al.

Journal of Diabetes Research, 2021

34258292 (PubMed )
Supplement: 6669731.f1.zip › 6669731.f1 › 6669731.f1.pdf

Polymorphism in ion channel genes of Dirofilaria immitis: Relevant knowledge for future anthelmintic drug design.

Mani T et al.

International Journal for Parasitology. Drugs and Drug Resistance, 2016

Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V.

Park HJ et al.

Journal of Clinical Neurology (seoul, Korea), 2016

27273923 (PubMed )
Supplement: jcn-12-373-s003.pdf

First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy.

Park HJ et al.

Journal of Clinical Neurology (seoul, Korea), 2016

26320847 (PubMed )
Supplement: jcn-12-121-s004.pdf
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