CRISPR/Cas9 technology generated an A to C nucleotide change at position 413 resulting in a glutamate to alanine change at amino acid 138 (p.Glu138Ala). (J:289239)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count