Sequencing the entire coding region of this allele showed a a single C-to-T transition in exon 6, leading to an alanine to valine substitution at position 242 (p.A242V). (J:5322, J:42980)
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Sequencing the entire coding region of this allele showed a a single C-to-T transition in exon 6, leading to an alanine to valine substitution at position 242 (p.A242V). (J:5322, J:42980)