All individuals with variants in gene CEP41

7 entries on 1 page. Showing entries 1 - 7.
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AscendingIndividual ID     

ID_report     

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VIP     

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Owner     
00028914 2-51 Pat3 PubMed: Kroes 2016 - - - - Europe-N - 0 - - JBTS1 - 1 1 Sanne Savelberg
00050581 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? patent ductus arteriosus, midline central nervous system lipomas, global developmental delay, abnormality of the sclera, short philtrum 1 1 Johan den Dunnen
00294329 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 7 Mohammed Faruq
00294330 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00294331 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 14 Mohammed Faruq
00305133 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00331742 RP-2273 PubMed: Sanchez-Navarro 2018 - - - Spain - - 0 - - retinal disease congenital nystagmus, Leber congenital amaurosis, developmental delay, congenital hypothalamic obesity, hypogonadism, acantosis nigricans, clinodactyly 1 1 LOVD
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