All individuals with variants in gene FTHL17

3 entries on 1 page. Showing entries 1 - 3.
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AscendingIndividual ID     

ID_report     

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VIP     

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Owner     
00172929 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 11 Lucy Raymond
00376350 FamIndII2 PubMed: Chin 2021 3-generation family, carrier mother/daugther, carrier fetus/uncle - - Canada - - 0 - - Healthy/Control variant identified incidentally during assessment daughter with paroxysmal episodes eventually attributed to benign positional torticollis and episodic ataxia syndrome or benign paroxysmal vertigo 1 4 Johan den Dunnen
00381524 FamPatII1 PubMed: Chin 2021 3-generation family, 3 carrier females, carrier male (PatII1, uncle) and carrier fetus (PatIII2; incidentally detected partial duplication DMD gene in daughter (PatIII1) F - United States - - 0 - - ? - 1 5 Johan den Dunnen
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