Add to ORKGSplicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyse
Purpose: Lynch syndrome is a genetic disease that predisposes to colorectal tumors, caused by mutati...
Substitutions that disrupt pre-mRNA splicing are a common cause of genetic disease. On average, 13.4...
textabstractBackground and Aims Lynch Syndrome (LS) is caused by pathogenic germline variants in one...
Functional assays that assess mRNA splicing can be used in interpretation of the clinical significan...
Functional assays that assess mRNA splicing can be used in interpretation of the clinical significan...
Lynch syndrome (LS) is caused by germline mutations in DNA mismatch repair (MMR) genes and is the mo...
AbstractBackground: Lynch‐like syndrome (LLS) represents around 50% of the patients fulfill...
International audienceNumerous unclassified variants (UVs) have been found in the mismatch repair ge...
Lynch syndrome represents 1-7% of all cases of colorectal cancer and is an autosomal-dominant inheri...
International audienceBackground Spliceogenic variants in disease-causing genes are often presumed p...
With the discovery that the hereditary cancer susceptibility disease Lynch syndrome (LS) is caused b...
Lynch syndrome, a heritable form of cancer predisposition, is caused by germline mutations within ge...
X-linked Alport syndrome (XLAS) is a congenital renal disease caused by mutations in COL4A5. In XLAS...
Germline pathogenic variants in the DNA mismatch repair genes (MMR): MLH1, MSH2, MSH6, and PMS2, are...
Reliable methods for predicting functional consequences of variants in disease genes would be benefi...
Purpose: Lynch syndrome is a genetic disease that predisposes to colorectal tumors, caused by mutati...
Substitutions that disrupt pre-mRNA splicing are a common cause of genetic disease. On average, 13.4...
textabstractBackground and Aims Lynch Syndrome (LS) is caused by pathogenic germline variants in one...
Functional assays that assess mRNA splicing can be used in interpretation of the clinical significan...
Functional assays that assess mRNA splicing can be used in interpretation of the clinical significan...
Lynch syndrome (LS) is caused by germline mutations in DNA mismatch repair (MMR) genes and is the mo...
AbstractBackground: Lynch‐like syndrome (LLS) represents around 50% of the patients fulfill...
International audienceNumerous unclassified variants (UVs) have been found in the mismatch repair ge...
Lynch syndrome represents 1-7% of all cases of colorectal cancer and is an autosomal-dominant inheri...
International audienceBackground Spliceogenic variants in disease-causing genes are often presumed p...
With the discovery that the hereditary cancer susceptibility disease Lynch syndrome (LS) is caused b...
Lynch syndrome, a heritable form of cancer predisposition, is caused by germline mutations within ge...
X-linked Alport syndrome (XLAS) is a congenital renal disease caused by mutations in COL4A5. In XLAS...
Germline pathogenic variants in the DNA mismatch repair genes (MMR): MLH1, MSH2, MSH6, and PMS2, are...
Reliable methods for predicting functional consequences of variants in disease genes would be benefi...
Purpose: Lynch syndrome is a genetic disease that predisposes to colorectal tumors, caused by mutati...
Substitutions that disrupt pre-mRNA splicing are a common cause of genetic disease. On average, 13.4...
textabstractBackground and Aims Lynch Syndrome (LS) is caused by pathogenic germline variants in one...