Varaico: Literature-Extracted Genetic Variants

Gene:ANKH
Variant:p.V285_Y290del0
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ANKH

NM_054027.6:p.V285_Y290del0

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

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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."