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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC24A4

Variant:p.M435L

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SLC24A4

NM_153647.4:p.M435L

hg38:chr14:92482784 A>T

Associated Papers

Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.

Parry DA et al.

American Journal of Human Genetics, 2013

23375655 (PubMed )

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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."