Sentence examples for mutation reported initially from inspiring English sources

Since then we have further found in patient #13 the C31LfsX34 mutation reported initially in a Canadian family UBC-17 with chromosome 17-linked tau negative histology and published in Baker et al. [ 1], and a novel PGRN mutation (V452WfsX38) in patient #7 (Pickering-Brown, unpublished data), both with type 1 histology.

The D. discoideum genome was reported initially in 2005 [ 10].

It was initially described as a tumor suppressor gene (TSG), with a low frequency of deletions and mutations reported in a variety of cancer types [ 9].

Empirically, 1% of mutations reported better GA performance.

NOD2 IVS8+158 gene mutation was initially reported to confer higher risk for Crohn's disease in Ashkenazi Jews [ 16].

This mutation was initially reported in one-third of hyperplastic benign breast lesions, although several recent studies failed to detect it in benign or malignant breast tissues.

This mutation was initially reported to promote the formation of toxic oligomers, and APP E693Δ transgenic mice lack extensive amyloid deposition [ 27, 30].

Mice carrying the classic Crouzon syndrome associated Fgfr2C342Y mutation were initially reported to have characteristics similar to those of Crouzon syndrome patients including a dome-shaped skull, wide set and proptotic eyes, premature fusion of cranial sutures, and a shortened maxilla [ 32].

Specifically, two of the four mutations initially reported to cause JME with high penetrance, and reported to co-segregate with JME, 7 are variants found in individuals in the National Heart, Blood and Lung Institute Exome Variant Server EVSS: http://evs.gs.washington.edu/EVS) database.

Germline CDH1 mutations were initially reported in patients with hereditary diffuse gastric cancer (HDGC) (Guilford et al, 1998).

Initially, Drosophila homozygous for this mutation were reported as being sensitive to ionizing radiation.