Varaico: Literature-Extracted Genetic Variants

Gene:DMP1
Variant:p.Q61_A62Splc
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DMP1

NM_004407.4:p.Q61_A62Splc

Associated Papers

Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults.

Tavana N et al.

Endokrynologia Polska, 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

Osteocyte regulation of phosphate homeostasis and bone mineralization underlies the pathophysiology of the heritable disorders of rickets and osteomalacia.

Feng JQ et al.

Bone, 2013

Mineralizing enthesopathy is a common feature of renal phosphate-wasting disorders attributed to FGF23 and is exacerbated by standard therapy in hyp mice.

Karaplis AC et al.

Endocrinology, 2012

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation.

Mäkitie O et al.

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