The p.Tyr20His mutation was engineered by site directed mutagenesis and inserted into exon 3. A neomycin resistance gene under the phosphoglycerate kinase 1 promoter, used as a positive selectable marker. (J:231935)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count