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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAGIX

Variant:p.I205L

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MAGIX

NM_024859.4:p.I205L

hg38:chrX:49165295 A>C

Associated Papers

Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.

Carroll R et al.

European Journal of Human Genetics : Ejhg, 2017

28612833 (PubMed )

Supplement: ejhg201797x1.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."