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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2014 | 1 |
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Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
Hum Mol Genet. 2000 Sep 1;9(14):2107-16. doi: 10.1093/hmg/9.14.2107.
Hum Mol Genet. 2000.
PMID: 10958649
Identifying mutations in Tunisian families with retinal dystrophy.
Habibi I, Chebil A, Falfoul Y, Allaman-Pillet N, Kort F, Schorderet DF, El Matri L.
Habibi I, et al.
Sci Rep. 2016 Nov 22;6:37455. doi: 10.1038/srep37455.
Sci Rep. 2016.
PMID: 27874104
Free PMC article.
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Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.
Porto FBO, Jones EM, Branch J, Soens ZT, Maia IM, Sena IFG, Sampaio SAM, Simões RT, Chen R.
Porto FBO, et al.
Genes (Basel). 2017 Nov 29;8(12):355. doi: 10.3390/genes8120355.
Genes (Basel). 2017.
PMID: 29186038
Free PMC article.
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RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.
Xiong HY, et al.
Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.
Science. 2015.
PMID: 25525159
Free PMC article.
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