Varaico: Literature-Extracted Genetic Variants

Gene:MCCC2
Variant:p.R332Q
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MCCC2

NM_022132.5:p.R332Q

Associated Papers

Genomic sequencing enhances metabolic newborn screening in Thailand.

Kuptanon C et al.

Clinical Biochemistry, 2026

Molecular testing in newborn screening: VUS burden among true positives and secondary reproductive limitations via expanded carrier screening panels.

Cook S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

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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."