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1 records shown · first 60Mutational spectrum of BRAF gene in colorectal cancer patients in Saudi Arabia.
PMID 34588906 | PMCID PMC8459112 | DOI 10.1016/j.sjbs.2021.06.048 · Saudi journal of biological sciences · 2021 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | E586E | “The novel frameshift mutations observed in CRC patients, such as c.1758delA (E586E), c.1826insT (Q609L), c.1860insA and c.1860insA/C (M620I), led to truncated proteins of 589, 610, and 629 amino acids, respectively, and potentially affected the structure and the normal functions of BRAF.” | 0.82 | literature_variant_regex_v2 |
| gene | BRAF | “Mutational spectrum of BRAF gene in colorectal cancer patients in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| phenotype | colorectal cancer | “Mutational spectrum of BRAF gene in colorectal cancer patients in Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Mutational spectrum of BRAF gene in colorectal cancer patients in Saudi Arabia. Colorectal cancer (CRC) is one of the topmost causes of death in males in Saudi Arabia. It is very important to determine the genetic causes of CRC in the Saudi population. In this study, we mapped the spectrum of BRAF mutations in 100 Saudi patients with CRC. These findings provide insights into the molecular etiology of CRC in general and to the Saudi population.” | 0.95 | saudi_context_rules_v1 |