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SNP information rs41295284

RS41295284

Normal allele: TT

Polymorphism rs41295284 is related to topics like this:

BRCA gene

BRCA stands for "BReast CAncer gene" and refers to two distinct genes, BRCA1 and BRCA2, which have...

Research and publications:

  10713887   Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach.

  11839723   Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.

  17510385   Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.

  18561205   A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

  19389263   Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.

  20978114   An MLH1 mutation links BACH1/FANCJ to colon cancer, signaling, and insight toward directed therapy.

  21681552   Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.

  22736432   Comprehensive functional assessment of MLH1 variants of unknown significance.

  22949387   Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

  23523604   Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays.

  24033266   A systematic approach to assessing the clinical significance of genetic variants.

  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.

DNA diet

The DNA Diet report is tailored to assist with weight management by offering personalized diet and...

Keto genetics

The KD, a diet low in carbohydrates and high in fat and protein, has been shown to effectively...

Low calorie diet genetic

Dieters can determine which diet would result in more weight loss by undergoing a genetic test,...

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