Insertion of a neomycin resistance cassette into exon 6 results in a stop codon and is predicted to code for a truncated protein of less than 40% of mature size. (J:108588)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count