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By Gottfried I.  

Human Molecular Genetics, Vol. 11, Iss. 11, 2002-05 ,pp. : 1311-1316

Oxford University Press

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A novel I247T missense mutation in the haptoglobin 2 β-chain decreases the expression of the protein and is associated with ahaptoglobinemia

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Springer Publishing Company

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Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism

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Premature Ovarian Failure Caused by a Heterozygous Missense Mutation in POF1B and a Reciprocal Translocation 46,X,t(X;3)(q21.1;q21.3)

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Sexual Development, Vol. 9, Iss. 2, 2015-02 ,pp. : 86-90

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Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

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