Varaico: Literature-Extracted Genetic Variants

Gene:GNMT
Variant:p.G151Splc
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GNMT

NM_018960.6:p.G151Splc

Associated Papers

Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.

Cao Z et al.

Molecular Genetics & Genomic Medicine, 2024

38284445 (PubMed )
Supplement: MGG3-12-e2357-s005.xlsx › Sheet1

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

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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."