Jennifer Johnston
0000-0002-1012-6358
3 papers found
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Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility
NAA10 polyadenylation signal variants cause syndromic microphthalmia
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