Article

Synergistic effects of Heterozygous variants of NOD2, IL10RA, PLA2G6 and COL7A1 causative an extreme early-onset and severe Crohn's disease

2022-05-06

Abstract excerpt

To identify candidate pathogenic genes of early-stage Crohn’s disease (CD) and predict potential roles of genetic factors in CD, we performed whole exome sequencing on a child with early-stage Crohn’s disease (CD) and her parents (core family), found that the patient carried heterozygous variants of 4 genes: NOD2 c. 2257 C>T, IL10RA c. 301 C>T, PLA2G6 c. 2029 C>T, COL7A1 c. 3190 G>A. With joint action of NOD2...

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Literature Corpus work: 92c614d9-5446-5f74-a92e-6ab8d95707c7
DOI: 10.22541/au.165183303.34926631/v1

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