Varaico: Literature-Extracted Genetic Variants

Gene:DMP1
Variant:p.W33*
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DMP1

NM_004407.4:p.W33*

Associated Papers

A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Cochran M et al.

Molecular Genetics & Genomic Medicine, 2021

Clinical Characteristics and Bone Features of Autosomal Recessive Hypophosphatemic Rickets Type 1 in Three Chinese Families: Report of Five Chinese Cases and Review of the Literature.

Ni X et al.

Calcified Tissue International, 2020

A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets.

Koshida R et al.

Journal of Bone and Mineral Metabolism, 2010

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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."