The molecular lesion is a 26 bp deletion in exon 1 resulting in a frame shift and the introduction of a premature stop codon. This is predicted to truncate the encoded protein after 85 amino acids (23 endogenous and 62 novel amino acids). (J:272648)
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The molecular lesion is a 26 bp deletion in exon 1 resulting in a frame shift and the introduction of a premature stop codon. This is predicted to truncate the encoded protein after 85 amino acids (23 endogenous and 62 novel amino acids). (J:272648)