Varaico: Literature-Extracted Genetic Variants

Gene:POPDC1
Variant:p.I193S
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POPDC1

NM_001199563.2:p.I193S

Associated Papers

Progress on the study of Popeye domain-containing 3 (POPDC3) in malignancies and striated muscle function and homeostasis.

Sun CC et al.

Clinical Genetics, 2023

Systemic AAV9.BVES delivery ameliorates muscular dystrophy in a mouse model of LGMDR25.

Li H et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2023

A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25.

Mahmood A et al.

Clinical Genetics, 2023

Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1).

Gangfuß A et al.

Molecular Genetics and Metabolism, 2022

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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."