Recurrent homozygous damaging mutation in [electronic resource]
Producer: 20210204Description: 274-282 p. digitalISSN:- 1468-6244
- Amino Acid Sequence -- genetics
- Child
- Child, Preschool
- Consanguinity
- Endoplasmic Reticulum -- genetics
- Exons -- genetics
- Female
- Genetic Predisposition to Disease
- Homozygote
- Humans
- Male
- Membrane Proteins -- genetics
- Microcephaly -- genetics
- Mutation -- genetics
- Protein Disulfide-Isomerases -- genetics
- Protein Folding
- Thioredoxins -- genetics
- Exome Sequencing
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
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