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However, because this variant is in the intron, rather than in the exon, it is technically difficult to construct the expression plasmid for this HTRA2 intronic variant.
Because this variant is rare in subjects of European and African descent, this strong finding is not seen, nor expected, in non-Asian populations.
Because this variant is tumor specific and highly immunogenic, it can be used for both a diagnostic marker as well as a target for immunotherapy.
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We also showed that the PD-1Δex3 splice variant encoding for sPD-1 is specifically associated with RA but is not related to the T-cell activation state, because expression of this variant is markedly increased in T cells derived from RA [ 31].
The recognition of this entity is of great importance to both pathologists and clinicians because atypical cellular neurofibroma is clever at masquerading both histologically and cytologically as a sarcoma; therefore, a precise diagnosis of this variant is essential because of the differences in treatment and clinical behavior between benignancy and malignancy.
The cause for the dramatic decline in activity upon introducing W116I in this variant is unclear because the parental cpOYE154 exhibits excellent stability, and substitutions in position 116 are generally well tolerated in OYE1 and other variants.
Because this variant was not found in a control population, this finding prompted us to investigate this candidate in high-risk melanoma families with no mutation of CDKN2A.
The p.R2784W variant in BRCA2 could not be classified because the only family with this variant was predicted below the cutoff point.
This variant was selected because a similar SLI substrate with the natural G at this position did not form a stable homogeneous complex with SLV for NMR studies (data not shown).
Because the variant is found in African populations, it must have arisen before modern humans left Africa some 50,000 years ago.
For example, a variant should not be reported as pathogenic in one case and not pathogenic in another simply because the variant is not thought to explain disease in a given case.
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Since I tried Ludwig back in 2017, I have been constantly using it in both editing and translation. Ever since, I suggest it to my translators at ProSciEditing.

Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com