Varaico: Literature-Extracted Genetic Variants

Gene:DMP1
Variant:p.P18_V19Splc
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DMP1

NM_004407.4:p.P18_V19Splc

Associated Papers

Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets.

Tavana N et al.

Italian Journal of Pediatrics, 2022

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

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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."