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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCC1

Variant:p.I726_L727ins10

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ABCC1

NM_004996.4:p.I726_L727ins10

hg38:chr16:16083426 A>ANNNNNNNNNNNNNNNNNNNNNNNNNNNNNN

Associated Papers

Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation.

Crahes M et al.

European Journal of Medical Genetics, 2013

23643676 (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."