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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMADHC

Variant:p.T281I

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MMADHC

NM_015702.3:p.T281I

hg38:chr2:149570023 G>A

Associated Papers

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Martín-Rivada Á et al.

Jimd Reports, 2022

35281663 (PubMed )

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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."