WES identified one compound heterozygous variation in the DYNC2H1(NM_001080463.2) gene, namely exon(64-83)del and c.8190G>T(p.L2730F)
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https://figshare.com/articles/dataset/WES_identified_one_compound_heterozygous_variation_in_the_DYNC2H1_NM_001080463_2_gene_namely_exon_64-83_del_and_c_8190G_T_p_L2730F_/21738650
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资源简介：
A compound heterozygous variation in <em>DYNC2H1</em> gene with 2 variants, exon(64-83)del and c.8190G>T, was identified and confirmed. Consistent with autosomal-recessive segregation, the parents were heterozygous for the identified mutations: the father carried exon(64-83)del, while the mother carried c.8190G>T.
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figshare
创建时间：
2022-12-16
