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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Eur J Hum Genet. 2005 Mar;13(3):302-8. doi: 10.1038/sj.ejhg.5201269.
Eur J Hum Genet. 2005.
PMID: 15657609
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.
Sergouniotis PI, Barton SJ, Waller S, Perveen R, Ellingford JM, Campbell C, Hall G, Gillespie RL, Bhaskar SS, Ramsden SC, Black GC, Lovell SC.
Sergouniotis PI, et al.
Orphanet J Rare Dis. 2016 Sep 14;11(1):125. doi: 10.1186/s13023-016-0505-0.
Orphanet J Rare Dis. 2016.
PMID: 27628848
Free PMC article.
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