All individuals with variants in gene SDHAF2

11 entries on 1 page. Showing entries 1 - 11.
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Owner     
00072986 - - Dutch Founder Mutation,Spanish recurrent mutation; 2 families 53 affected; 1 isolated case - - Netherlands - - 0 - - PGL - 1 2 Jean-Pierre Bayley
00072987 - - Dutch SNP; 1 isolated case - - - - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00072988 - - 1 family 2 affected - - Belgium - - 0 - - PGL - 1 0 Jean-Pierre Bayley
00073091 - - 1 isolated case - - Italy - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00073092 - - 1 isolated case - - Italy - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00073100 - - - - - - - - 0 - - PGL - 1 1 Luigi Mori
00079380 - PubMed: Casey - - - Ireland - - 0 - - PGL GJT;CBT 1 2 Jean-Pierre Bayley
00079445 - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00079467 - PubMed: Dénes - - - - - - 0 - - PGL - 1 1 Jean-Pierre Bayley
00176985 69986 - - F no Switzerland - - 0 - - EE , Muscular hypotonia of the trunk (HP:0008936); Spastic paraparesis (HP:0002313); Horizontal pendular nystagmus (HP:0007811); Esotropia (HP:0000565); Abnormality of ocular smooth pursuit (HP:0000617) 1 1 Anaïs Begemann
00295540 - - - F - - - - 0 - - ? Neoplasm of the lung (HP:0100526); Bronchial neoplasm (HP:0030077) 1 1 Andreas Laner
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