Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.V51F
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FKRP

NM_024301.5:p.V51F

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

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.

Wang L et al.

Orphanet Journal of Rare Diseases, 2018

FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.

Fu X et al.

Journal of Human Genetics, 2016

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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."