Erratum: A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (The American Journal of Human Genetics (2018) 102(5) (995–1007), (S0002929718300946) (10.1016/j.ajhg.2018.03.005))

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Research output: Contribution to journalComment/Letter to the editorAcademicpeer-review

Abstract

(The American Journal of Human Genetics 102, 995–1007; May 3, 2018) In the version of this paper published online on April 12, 2018, two sentences require modification. On page 998, the original text read, “…we ascertained 12 additional individuals harboring the same de novo heterozygous missense variant, GenBank: NM_018026.2; c.607C>T (p.Glu209Lys) (Figure 1).” This sentence has been corrected to read: “…we ascertained 12 additional individuals harboring the same de novo heterozygous missense variant, c.625G>A (p.Glu209Lys) (GenBank: NM_001100913.2) (Figure 1).” The new sentence has a corrected RefSeq accession number and cDNA change. Also on page 998, the original text read, “This recurrence strongly supported the implication of the PACS2 c.607C>T (p.Glu209Lys) missense variant in human disease…” The sentence has been corrected to read: “This recurrence strongly supported the implication of the PACS2 c.625G>A (p.Glu209Lys) missense variant in human disease…” As in the first sentence, the cDNA description of the variant has been corrected. The authors thank OMIM for pointing out these errors.

Original languageEnglish
Number of pages1
JournalAmerican Journal of Human Genetics
Volume103
Issue number4
DOIs
Publication statusPublished - 4 Oct 2018

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