This mutation comprises deletion of exon 16, predicted to cause in-frame splicing of exon 15 to exon 17, resulting in deletion of 52 amino acids from Pro359 through Phe410. (J:125551)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count