Ghosh, Shereen Georges <br/><br/>
Recurrent homozygous damaging mutation in   [electronic resource] 

 -  Journal of medical genetics  04 2020 
 - 274-282 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2019-106409  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence--genetics<br/>Child<br/>Child, Preschool<br/>Consanguinity<br/>Endoplasmic Reticulum--genetics<br/>Exons--genetics<br/>Female<br/>Genetic Predisposition to Disease<br/>Homozygote<br/>Humans<br/>Male<br/>Membrane Proteins--genetics<br/>Microcephaly--genetics<br/>Mutation--genetics<br/>Protein Disulfide-Isomerases--genetics<br/>Protein Folding<br/>Thioredoxins--genetics<br/>Exome Sequencing