CRISPR-targeting of exon 3 and 5 deleted 19,000 bp producing a truncated protein of 45 amino acids identical to the wild-type, followed by four missense amino acids and a premature STOP codon. (J:304963)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count