Varaico: Literature-Extracted Genetic Variants

Gene:MLYCD
Variant:p.E318fs
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MLYCD

NM_012213.3:p.E318fs

Associated Papers

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Alfadhel M et al.

Orphanet Journal of Rare Diseases, 2016

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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."