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Year | Number of Results |
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2003 | 1 |
2017 | 1 |
2020 | 1 |
2024 | 0 |
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Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.
JAMA Ophthalmol. 2017 Dec 1;135(12):1376-1385. doi: 10.1001/jamaophthalmol.2017.4859.
JAMA Ophthalmol. 2017.
PMID: 29145603
Free PMC article.
Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains.
Cross E, Duncan-Flavell PJ, Howarth RJ, Crooks RO, Thomas NS, Bunyan DJ.
Cross E, et al.
Eur J Med Genet. 2020 Jul;63(7):103940. doi: 10.1016/j.ejmg.2020.103940. Epub 2020 Apr 30.
Eur J Med Genet. 2020.
PMID: 32360764
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Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.
Vincent MC, Pujo AL, Olivier D, Calvas P.
Vincent MC, et al.
Eur J Hum Genet. 2003 Feb;11(2):163-9. doi: 10.1038/sj.ejhg.5200940.
Eur J Hum Genet. 2003.
PMID: 12634864
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