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Identification of a Mendelian cause of recurrent fetal loss by exome sequencing. (a) Schematic of CHRNA1 protein with the novel mutation indicated by an inverted red triangle. Sequence chromatogram of the fetus and the carrier parent is shown to the right. (b) R254 is strongly conserved in CHRNA1 orthologs. (c) R254 is also conserved across other human CHRN proteins.
