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Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals.

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NIAID Data Ecosystem2026-03-08 收录
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https://figshare.com/articles/dataset/_Top_30_Amish_specific_putative_damaging_exonic_missense_variants_by_prevalence_in_affected_individuals_/960998
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资源简介:
Exonic missense variants, identified in 50 subjects with WGS, were filtered by <2% allele frequency in 1000 Genomes, EVS and 54 HapMap WGS. Functional impact was assessed by consensus of Polyphen2 and SIFT.
创建时间:
2014-03-13
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