CRISPR/Cas9 technology generated a 126 bp deletion of exon 5, resulting in a mutated protein with a 42-amino acid deletion in-frame that disrupts parts of the hydrophobic heptad repeat domain. (J:312483)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count