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P Pollard et al.
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T Gudbjartsson et al.
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IPM Tomlinson et al.
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K Kondo et al.
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Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2
LS Schmidt et al.
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CA Friedrich
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Inherited susceptibility to uterine leiomyomas and renal cell cancer
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