Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.Q182R
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LMNA

NM_170707.4:p.Q182R

Associated Papers

Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients.

Lin F et al.

Orphanet Journal of Rare Diseases, 2023

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

Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene.

Xie Z et al.

Biomed Research International, 2018

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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."