Varaico: Literature-Extracted Genetic Variants

Gene:POPDC1
Variant:p.Q153*
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POPDC1

NM_001199563.2:p.Q153*

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

Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.

Swan AH et al.

Acta Neuropathologica Communications, 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."