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Five individuals were heterozygous carriers of the MYBPC3 p.variantandanthree three carried the MYH7 p.M982T variant.
Forty-four BRAF-positive patients underwent surgery and all except one patient were found to have PTCs (34 classic type, six follicular variant, and three tall cell variant).
By doing so, we were able to design three CatA variants which outperformed both a commercially-optimized sequence (Blue Heron variant) and three control CatA variants in stationary phase.
A total of eight NP-C uncertain patients (#1, 4, 5, 7 10 and 12) displayed a mono-allelic unclassified variant, among whom five patients (#1, 5, 7, 8 and 12) had an NPC1 variant and three (#4, 9 and 10) had an NPC2 variant.
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Multiple allelic variants of these proteins were identified, different allelic variants dominated in different continents; the observed variation was predicted to impact the antigenicity and structure of two SP0148 variants, one SP1912 variant and four SP2108 variants, however these variants were each only present in a small fraction of the global population (<2%).
DF, an organochemically synthesized linkage variant, and five major Phase I metabolites were covalently coupled to carrier proteins.
Six individuals were heterozygote carriers of the CSRP3 p.W4R variant and two carried the MYH6 p.A1004S variant.
We genotyped the GWAS common variant and four rare variants previously reported for ABCA7 in 3476 European Americans.
Whole-exome sequencing confirmed the subject's isozygosity for the LIFR variant and ten rare variants (Table S1).
Among the 28 PTC samples, 24 are classic PTC, one tall cell variant and two follicular variant of PTC.
Altogether seven different sequence changes were observed, one missense variant and six intronic ones.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com