Genotype-phenotype correlation of the <i>MLH1</i> c.1852_1853delinsGC (p.K618A) variant with clinical and pathological characteristics in colorectal cancer cases from the Epicolon cohort.

<p>CRC, colorectal cancer; OR, odds ratio; Prev/Sync, Previous/Synchronous; FH, family history; MSI, microsatellite instability; TNM, tumor-node-metastasis.</p

Allelic discrimination for c.1852_1853delinsGC (p.K618A) variant in the <i>MLH1</i> gene by using the TaqMan system.

<p>Red dots correspond to non-carriers (AA/AA genotype) and green dots to heterozygous carriers (AA/GC).</p

Genotypic association results for the <i>MLH1</i> c.1852_1853delinsGC (p.K618A) variant in 18,723 individuals from 7 cohorts.

<p>OR, odds ratio.</p

Additional file 7: Table S6. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Gene recurrence and burden test. (XLSX 14 kb

Additional file 9: Table S8. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Characteristics of 116 ENS-related HSCR candidate genes. (XLSX 32 kb