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Filters: Keyword is Infant, Newborn and Author is Wong, Lee-Jun [Clear All Filters]
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 ;8(1):106.
. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet. 2013 ;93(3):471-81.
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