A CC to GAAAAG substitution 304 bp from the ATG putatively results in a frame shift such that after the first 105 amino acids, there are two substitutions (GE to LF) followed by a stop codon. (J:91782)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count