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Family MRQ14 homozygous and compound heterozygous variant validation using Sanger sequencing and in silico pathogenecity predictions.

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Figshare2015-12-02 更新2026-04-29 收录
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NM, mRNA accession number; PhyloP, Phylogenetic P-values; Polyphen, Polymorphism phenotyping; SIFT, Sorting intolerance from tolerance, Mutation taster (http://www.mutationtaster.org).Family MRQ14 homozygous and compound heterozygous variant validation using Sanger sequencing and in silico pathogenecity predictions.

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2015-12-02
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