Despite being mapped to a chromosome 3 interval containingn F3, no mutations could be identified in the gene (exons, intron and 5 kb upstream of exon 1). (J:244506)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count