Genomic

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Family-Based Study on Ulcerative Colitis with Whole Exome Sequencing


ABSTRACT:

Genetic risk factors for ulcerative colitis are not well understood. We performed a family-based whole exome sequencing analysis to identify potential causal mutations. In the proband, we found a heterozygous de novo mutation in the gene HSPA1L. Our results indicate that the de novo mutation in HSPA1L is associated with ulcerative colitis.

PROVIDER: phs001251 | dbGaP |

SECONDARY ACCESSION(S): PRJNA353971PRJNA353972

REPOSITORIES: dbGaP

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