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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZNF534

Variant:p.N40H

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ZNF534

NM_001143938.3:p.N40H

hg38:chr19:52434057 A>C

Associated Papers

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta.

Smith CE et al.

European Journal of Human Genetics : Ejhg, 2017

28513613 (PubMed )

Supplement: ejhg201779x2.docx

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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."