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Interpretable prioritization of splice variants in diagnostic next-generation sequencing.

作者信息

Danis Daniel, Jacobsen Julius O B, Carmody Leigh C, Gargano Michael A, McMurry Julie A, Hegde Ayushi, Haendel Melissa A, Valentini Giorgio, Smedley Damian, Robinson Peter N

出版信息

Am J Hum Genet. 2021 Nov 4;108(11):2205. doi: 10.1016/j.ajhg.2021.09.014.

DOI:10.1016/j.ajhg.2021.09.014
PMID:34739835
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8595927/
Abstract
摘要