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Subsequently, 2 nonsense mutations and a small indel mutation were discovered in 1 female and 2 male Kabuki patients.
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The mutation was discovered in 1917, by Thomas Hunt Morgan, an American biologist who revealed the importance of chromosomes in heredity.
After the AIP gene mutation was discovered in 2006, Dr. Korbonits asked to test Mr. Holland to see if he had it.
The physical site of this mutation is discovered in the third of the novel's connected stories, "Everything Can Be Explained", by a pair of young women scientists who discover that loop within the brain where the sense of selfhood is "retuned, refined and enriched" by memory.
NLRP14 mutation was discovered in five of 157 men with azoospermaia or severe oligozoospermia [10].
Tumor DNA was sequenced and no mutation was discovered in EGFR, KRAS, BRAF, KIT, and PDGFRA.
When the mutation was discovered in 2011, C9orf72 protein was of unknown function.
Recently, a mutation was discovered in the DMRT3 gene that controls pacing in horses.
V600E mutation was discovered in the BRAF gene of one patient.
The non-informative individuals: they belong to these at-risk families where no known mutation is discovered.
Among the 478 ovarian cancer patients, 19 BRCA1 mutations were identified (4.0%) (Table 1), and no mutation was discovered among the 190 patients with borderline tumours.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com