Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.P89S
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FKRP

NM_024301.5:p.P89S

Associated Papers

Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.

López-Rodríguez R et al.

Scientific Reports, 2022

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.

Murphy LB et al.

Annals of Clinical and Translational Neurology, 2020

32342672 (PubMed )
Supplement: ACN3-7-757-s001.pdf

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

Inashkina I et al.

Bmc Musculoskeletal Disorders, 2016

27142102 (PubMed )
Supplement: 12891_2016_1058_MOESM1_ESM.docx

[Clinical-genetic analysis of limb-girdle muscular dystrophy 2 type I].

Ryzhkova OP et al.

Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2012

[Hereditary neuromuscular diseases in paediatrics. Our experience over the last 14 years].

López-Pisón J et al.

Revista De Neurologia, 0

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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."