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You know how mutation works.
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However, it is not yet known how mutations in a particular RP gene result in specific cellular changes, or how RP genes might contribute to human diseases.
It is not known how mutations in PLA2G6 cause neuropathology.
SEMA5A is a transmembrane protein that regulates the development of connections between neurons, but it is not known how mutations in the gene for SEMA5A might lead to brain illnesses such as autism spectrum disorders.
Unless you do an audit trail there is no way that you would know how that mutation happened.
We would like to know how many mutation events from allele 1 to allele 2 are expected for either fate of allele 1.
Without this, any mutations that we might make are potentially difficult to interpret, since we will not know how these mutations affect the properties of the myosin.
Somehow — Dr. Xavier doesn't yet know how — the mutations cause FleN to produce a multitude of tails, all of which are fully functional.
In designing mutagenesis experiments, it is often crucial to know how certain mutations will affect the structure and thermodynamic stability of the protein.
It also brings up crucial questions for future research: Scientists still don't know how particular mutations cause cancer, why they lead to cancer in some tissues and not others, or what might be done to counteract the mutations.
C) It is difficult to know how different mutations in Bip impact overall structure (ADDA; V461F).
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com