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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMADHC

Variant:p.I205M

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MMADHC

NM_015702.3:p.I205M

hg38:chr2:149571166 G>C

Associated Papers

Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia.

Ku CA et al.

Ophthalmic Genetics, 2016

26979128 (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."