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Springer Nature1
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✓Human Genetics1
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20261
Pascal Martin results 1 · Newest (Page 1/1, per page 25)
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Journal: Human Genetics ×Author: Pascal Martin ×Clear All Filters
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RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and womenNARA Subscribed
Human Genetics · 2026 · Vol. 145 · Issue 1 · Springer
Manon Fabard; Aurore Devos; Anaïs F. Poncet; Jean-Pascal Meneboo; Martin Figeac; Céline Villenet; Isabelle Drumare; Sabine Defoort-Dhellemmes; Isabelle Meunier; Xavier Zanlonghi; Olivier Grunewald; Vincent Huin; Claire Lecigne; Vasily Smirnov; Claire-Marie Dhaenens
RPGR (Retinitis Pigmentosa GTPase Regulator ) is the main gene involved in X-linked retinitis pigmentosa (RP) and up to 28% of sporadic RP. Pathogenic variants are mostly located in its retina-specific transcript, RPGRorf15 , especially in the terminal exon named open reading frame 15 (ORF15) , which is a highly repeated region. Because of this complex sequence, first- and second-generation short-read sequencing are difficult,...
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