Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.R283Q
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FKRP

NM_024301.5:p.R283Q

Associated Papers

A Journey with LGMD: From Protein Abnormalities to Patient Impact.

Georganopoulou DG et al.

The Protein Journal, 2021

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle_without_known

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
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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."