Varaico: Literature-Extracted Genetic Variants

Gene:ANKH
Variant:p.P5T
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ANKH

NM_054027.6:p.P5T

Associated Papers

Novel ANKH amino terminus mutation (Pro5Ser) associated with early-onset calcium pyrophosphate disease with associated phosphaturia.

Gruber BL et al.

Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases, 2012

Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.

Zajac A et al.

American Journal of Medical Genetics. Part A, 2010

P5L mutation in Ank results in an increase in extracellular inorganic pyrophosphate during proliferation and nonmineralizing hypertrophy in stably transduced ATDC5 cells.

Zaka R et al.

Arthritis Research & Therapy, 2006

Genetics of chondrocalcinosis.

Zaka R et al.

Osteoarthritis and Cartilage, 2005

Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease.

Williams CJ et al.

Arthritis and Rheumatism, 2003

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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."