Article

<strong>Whole-Exome Data Analysis: Detection of Candidate Gene Mutations for Mitochondrial Encephalohepatopathy</strong>

2021-05-05

Abstract excerpt

Mitochondrial Encephalohepatopathy (MEH) is an autosomal recessive neurodevelopmental disorder usually accompanied by microcephaly, white matter changes, cardiac and hepatic failure. Here, we applied the whole-exome sequencing (WES) framework on a trio family data with unaffected non-consanguineous parents and proband (neonate girl) with this inherited disorder. A total of 2,928,402 variants were observed with 2,6...

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Literature Corpus work: effbf0f1-9fc9-5765-9f7f-2a42090df74f
DOI: 10.20944/preprints202105.0068.v1

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