Sequence Variants Found in Index Cases.
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RefSeq NG_008134.1, NM_004977.2, NP_004968.2, % reflects allele frequency.*Variant Found in patient with p.Arg423His and sister.**Known SNP rs35578310.
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2015-12-02
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RefSeq NG_008134.1, NM_004977.2, NP_004968.2, % reflects allele frequency.*Variant Found in patient with p.Arg423His and sister.**Known SNP rs35578310.