Varaico: Literature-Extracted Genetic Variants

Gene:DCSTAMP
Variant:p.L397F
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DCSTAMP

NM_030788.4:p.L397F

Associated Papers

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

Živković JM et al.

Dna and Cell Biology, 2025

Advances in the genetics of Paget's disease of bone: from pathophysiology, diagnosis to clinical implications.

Michou L et al.

Expert Review of Endocrinology & Metabolism, 2025

Targeted sequencing of DCSTAMP in familial Paget's disease of bone.

Sultana MA et al.

Bone Reports, 2019

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC9_ERR166333

Genetics of Paget's disease of bone.

Ralston SH et al.

Current Osteoporosis Reports, 2014

Identification of rare genetic variants in novel loci associated with Paget's disease of bone.

Beauregard M et al.

Human Genetics, 2014

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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."