Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM1
Variant:p.K99Splc
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PLEKHM1

NM_014798.3:p.K99Splc

Associated Papers

Clinical, genetic aspects and molecular pathogenesis of osteopetrosis.

Nadyrshina DD et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 2023

The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Sun J et al.

Genomics, Proteomics & Bioinformatics, 2020

32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6

Genetics of Osteopetrosis.

Palagano E et al.

Current Osteoporosis Reports, 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."