Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.E96K
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MMACHC

NM_015506.3:p.E96K

Associated Papers

Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.

Mao X et al.

Medicine, 2024

39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S3

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Wang T et al.

Frontiers in Genetics, 2019

Next-generation sequencing as a second-tier diagnostic test for newborn screening.

Luo X et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

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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."