Varaico: Literature-Extracted Genetic Variants

Gene:LCP1
Variant:p.A368D
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LCP1

NM_002298.5:p.A368D

Associated Papers

Osteogenesis imperfecta mutations in plastin 3 lead to impaired calcium regulation of actin bundling.

Schwebach CL et al.

Bone Research, 2020

Plastin 3 in X-Linked Osteoporosis: Imbalance of Ca2+-Dependent Regulation Is Equivalent to Protein Loss.

Schwebach CL et al.

Frontiers in Cell and Developmental Biology, 2020

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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."