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We found the V600E mutation in four samples (9.1%).
We detected two mutations in eight patients from six families and only one mutation in four patients from three families.
We studied the emergence and evolution of the canonical UL97 L595S mutation in four kidney recipients by comparing Sanger sequencing with a specific next-generation sequencing (NGS) assay, and assessed the global evolution of UL97 gene variability.
An additional pair of manuscripts phenotypically described the Sgcg−/− mutation in four commonly used strains [ 10].
In addition, we were able to validate the EGFR E746_A750del mutation in four cases with a mutation-specific antibody [ 28].
The six patients with intact PTEN expression who did not benefit from cetuximab had K-Ras mutation in four cases, eusomy in one case and both in one case: all these factors have been shown to predict resistance to cetuximab.
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Currently mutations in five genes CNGA3, CNGB3, GNAT2, PDE6C and PDE6H have been implicated in ACHM.
Banerjee, P. et al. TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.
Mutation in two KTI isoforms led to a lower concentration of lunasin after PPH.
These events are mediated by the RING domain since a mutation in two of the cysteines abolishes ligase activity.
Among these are GABRB3, with de novo mutations in four patients, and ALG13, with the same de novo mutation in two patients; both genes show clear statistical evidence of association with epileptic encephalopathy.
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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