Associated Papers
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
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Genome Medicine, 2021
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Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Compound heterozygous p. Arg949Trp and p. Gly970Ala mutations deteriorated the function of PEX1p: A study on PEX1 in a patient with Zellweger syndrome.
Alamatsaz M et al.
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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
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Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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