Varaico: Literature-Extracted Genetic Variants

Gene:ANKH
Variant:p.E440*
Back to variants list

ANKH

NM_054027.6:p.E440*

Associated Papers

The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface.

Seifert W et al.

Human Molecular Genetics, 2016

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.

Morava E et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

Genetics of chondrocalcinosis.

Zaka R et al.

Osteoarthritis and Cartilage, 2005

Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene.

Williams CJ

Current Opinion in Rheumatology, 2003

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.

Nürnberg P et al.

Nature Genetics, 2001

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."