All individuals with variants in gene MIR96

7 entries on 1 page. Showing entries 1 - 7.
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Owner     
00050581 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? patent ductus arteriosus, midline central nervous system lipomas, global developmental delay, abnormality of the sclera, short philtrum 1 1 Johan den Dunnen
00154479 19363479-Fam1 PubMed: Mencia 2009 5-generation family, 1 affecteds (20F, 17M) F;M no Spain - - - - - DFNA1 see paper; ... 1 37 Johan den Dunnen
00154480 19363479-Fam2 PubMed: Mencia 2009 4-generation family, 4 affecteds (F, 3M) F;M no Spain - - - - - DFNA1 see paper; ..., progressive, high-frequency hearing loss 1 4 Johan den Dunnen
00154481 19363479-DFN PubMed: Mencia 2009 - - - Spain - - - - - deafness - 1 4 Johan den Dunnen
00154482 19363479-DFN PubMed: Mencia 2009 - - - Spain - - - - - deafness - 1 10 Johan den Dunnen
00283615 - PubMed: Mencía 2009, PubMed: Shearer 1993 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
00283616 - PubMed: Mencía 2009, PubMed: Shearer 1993, PubMed: Modamio-Høybjør 2004 - - - - - - - - - HL - 1 1 Global Variome, with Curator vacancy
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