Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.S342N
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MCCC2

NM_022132.5:p.S342N

Associated Papers

Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening.

Qian J et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017

Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations.

Jung CW et al.

Journal of Human Genetics, 2012

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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."