Cumulative effect of synonymous c.1047C > T/p.Ile349= and c.1065G > A/p.Ala355=.

<p>Minigene assay evaluated by conventional agarose electrophoresis showing the effect of c.1047C > T/p.Ile349 = equivalent to the increase in skipping induced by c.1080C > T that was precisely quantified by Screen tape analysis (<a href="http://www.plosgenetics.org/article/info:...

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المؤلف الرئيسي:	Elina Mercier (22311151) (author)
مؤلفون آخرون:	David-Alexandre Trégouët (133741) (author), Sébastien Campagne (22311154) (author), Vincent Michaud (437274) (author), David J. Green (7247045) (author), Shahram Mesdaghi (22311157) (author), Orane Le Gallais (22311160) (author), Orphée Jouannigot-Castano (22311163) (author), Daniel J. Rigden (30029) (author), Catherine Estay-Ahumada (22311166) (author), David Hicks (287980) (author), Panagiotis I. Sergouniotis (12711353) (author), Benoit Arveiler (92738) (author), Sophie Javerzat (257199) (author)
منشور في:	2025
الموضوعات:	Medicine Genetics Molecular Biology Neuroscience Evolutionary Biology Ecology Mental Health Plant Biology Virology Environmental Sciences not elsewhere classified Biological Sciences not elsewhere classified variant significantly influences two coding mrnas skipping ratio depends representative european population first functionally tested association studies reveal ala355 =), located frame exon 10 exon 10 skipping pathogenic variants provides dependent hypopigmentation response several rare variants div >< p exon 10 pathogenic variants pathogenic due tightly associated structural models skipped transcript populations around physiological contexts particular exonic oca2 </ negative effect murine sequences minor transcript mammalian vertebrates mammalian species major transcript lighter skin length protein intronic combinations identified function genetic diagnosis gene result functional assays could exert cis </ additive effect
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Cumulative effect of synonymous c.1047C > T/p.Ile349= and c.1065G > A/p.Ala355=.

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