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PMC full text:
J Hum Genet. Author manuscript; available in PMC 2013 Mar 27.
Published in final edited form as:
J Hum Genet. 2011 Nov; 56(11): 801–805.
Published online 2011 Sep 8. doi:  10.1038/jhg.2011.105

Figure 2

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Detection of GOT1 (c.1165_1167delAAC) mutation. (a) Sequencing identified an in-frame deletion of three nucleic acids encoding asparagine at position 389 in GOT1 gene. (b) Asparagine (N, indicated by arrow) is conserved in cAST protein sequences among human, chimpanzee, mouse, xenopus, zebrafish and C. elegans. Peptide sequences are aligned using ClustalW212 with fully conserved amino acid marked with asterisk. Partial alignment of cAST is shown and amino acid positions are numbered to the left.

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