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SNP information rs63750123

RS63750123

Normal allele: TT

Polymorphism rs63750123 is related to topics like this:

Hereditary gastric cancer

Gastric cancer is the third leading cause of cancer-related deaths worldwide, with a 5-year...

Research and publications:

  16472587   Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

  16619239   Long-range PCR facilitates the identification of PMS2-specific mutations.

  22703879   Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

  24027009   Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.

  24556621   Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

  24689082   A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.

  24728327   Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Pancreas cancer genetic

Up to 15% of pancreatic cancers are attributed to gene mutations that are passed down through...

Alcoholism genes

Although alcohol is widely consumed, excessive use can lead to serious physical, psychological, and...

Lung cancer genetic

Abnormal lung cells multiplying uncontrollably to form a tumor characterizes lung cancer. Early...

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