CRISPR-targeting of exon 16 introduced 6 bp change encoding a stop codon at position 431. The truncated protein lacked the final 948 amino acids. (J:324145)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count