Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.S173insFs
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MCCC2

NM_022132.5:p.S173insFs

Associated Papers

Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

Crowgey EL et al.

The Journal of Molecular Diagnostics : Jmd, 2019

31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel

Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.

Puffenberger EG

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2003

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

Baumgartner MR et al.

The Journal of Clinical Investigation, 2001

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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."