Variant filtration of exome sequencing data from the index case compared with whole genome genotyping data in all three affected siblings.
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https://figshare.com/articles/dataset/_Variant_filtration_of_exome_sequencing_data_from_the_index_case_compared_with_whole_genome_genotyping_data_in_all_three_affected_siblings_/719160
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资源简介：
Only one gene, SACS, harbors variants consistent with autosomal recessive inheritance and shared by all three siblings.
*166 variants were not listed in dbSNP.
创建时间：
2015-12-02
