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Table 1 Gene families involved in RNA processing reaching FDR significance in Coe et al. [1] and their role in disease

From: Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Gene family

Genes reaching FDR significance

# of NDD candidate genes in gene family

Chromodomain DNA-binding proteins

CHD2, CHD3, CHD4, CHD7, CHD8

6/10

BAF complex

ARID1B, BCL11A, SMARCA2, SMARCA4, SMARCD1

16/24

Heterogeneous nuclear ribonuclear proteins

HNRNPU, SYNCRIP, HNRNPD, HNRNPK

7/33

Lysine acetyltransferases

CREBBP, DLG4, EP300, TAF1

5/17

  1. Gene families were defined by the HUGO Gene Nomenclature Consortium. At least three members of the gene family must reach FDR significance to be included. NDD candidate genes were determined by OMIM and a literature search. Coe et al. [1] n = 11,722 exomes
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Genome Medicine

ISSN: 1756-994X

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