Varaico: Literature-Extracted Genetic Variants

Gene:MCEE
Variant:p.L102*
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MCEE

NM_032601.4:p.L102*

Associated Papers

Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia.

Peng G et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30209273 (PubMed )
Supplement: 41436_2018_272_MOESM7_ESM.xlsx › Supplementary_Table_1
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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."