Clinical and mutation findings of p.Arg423His index patient and relatives.
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Nucleotide numbering for cDNA –based nomenclature uses 1+ as to the A of the ATG translation initiation codon in Genebank RefSeq NM_004977.2.The initiation codon is codon 1. RefSeq NG_008134.1, NP_004968.2.
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2015-12-02



