Varaico: Literature-Extracted Genetic Variants

Gene:ANKH
Variant:p.C339R
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ANKH

NM_054027.6:p.C339R

Associated Papers

Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia.

Kato T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2013

Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia.

Dutra EH et al.

Clinical Genetics, 2012

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.

Kornak U et al.

American Journal of Medical Genetics. Part A, 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."