A floxed neo/STOP cassette was inserted upstream of a modified exon 4 in which nucleotide substitution results in the amino acid substitution of histidine for arginine at position 132 (R132H). (J:186700)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count