Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.P453S
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FKRP

NM_024301.5:p.P453S

Associated Papers

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.

Liang WC et al.

Orphanet Journal of Rare Diseases, 2020

Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy.

Lin HT et al.

Chinese Medical Journal, 2018

Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture.

Lee Y et al.

Journal of Clinical Neurology (seoul, Korea), 2017

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."