Varaico: Literature-Extracted Genetic Variants

Gene:GALNT3
Variant:p.E375*
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GALNT3

NM_004482.4:p.E375*

Associated Papers

Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho).

Farrow EG et al.

Best Practice & Research. Clinical Rheumatology, 2011

Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.

Chefetz I et al.

Biochimica Et Biophysica Acta, 2009

Two novel GALNT3 mutations in familial tumoral calcinosis.

Garringer HJ et al.

American Journal of Medical Genetics. Part A, 2007

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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."