Varaico: Literature-Extracted Genetic Variants

Gene:ANKH
Variant:p.Y290H
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ANKH

NM_054027.6:p.Y290H

Associated Papers

PEDIA: prioritization of exome data by image analysis.

Hsieh TC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1

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."