Varaico: Literature-Extracted Genetic Variants

Gene:ABCC1
Variant:p.F50Y
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ABCC1

NM_004996.4:p.F50Y

Associated Papers

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.

Ridanpää M et al.

European Journal of Human Genetics : Ejhg, 2002

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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."