Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM1
Variant:p.T1017_T1018delFs
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PLEKHM1

NM_014798.3:p.T1017_T1018delFs

Associated Papers

Mutations in Osteoclast Genes as Causes of Osteoclast-Related Diseases.

Živković JM et al.

Dna and Cell Biology, 2025

Clinical, genetic aspects and molecular pathogenesis of osteopetrosis.

Nadyrshina DD et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 2023

Genetics of Osteopetrosis.

Palagano E et al.

Current Osteoporosis Reports, 2018

Characterization of a Relatively Malignant Form of Osteopetrosis Caused by a Novel Mutation in the PLEKHM1 Gene.

Bo T et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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."