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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMADHC

Variant:p.L103_S108ins2

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MMADHC

NM_015702.3:p.L103_S108ins2

hg38:chr2:149579478 T>TTGATAAAGGTTCTGCTAG

Associated Papers

Gene identification for the cblD defect of vitamin B12 metabolism.

Coelho D et al.

The New England Journal of Medicine, 2008

18385497 (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."