Varaico: Literature-Extracted Genetic Variants

Gene:HAGH
Variant:p.K136E
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HAGH

NM_005326.6:p.K136E

Associated Papers

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Tiranti V et al.

American Journal of Human Genetics, 2004

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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."