Deletion of nucleotides 1276-1356, encoding amino acids 407-433, resulted in the abolation of the Frs binding site without disrupting the alternative splicing of exons encoding the extracellular domain. (J:105920)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count