Original ResearchPublished 30 September 2026Characteristics of predicated pathogenic missense variants in human genes for Mendelian disordersRuocen Song · Xiaofei Bai · Xiao FanFrontiers in Bioinformaticsdoi 10.3389/fbinf.2026.1947929
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Health ArchivePublished 8 February 2024REEP4 variant analysis in blepharospasm and other neurological disordersSamira Saeirad · Mark S. LeDouxDystoniadoi 10.3389/dyst.2024.12016
