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Statistics for Disruption of NUBPL due to balanced translocation [t(3;14) (q26.33;q14)] increases severity of a family-specific PGK1 mutation

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Disruption of NUBPL due to balanced translocation [t(3;14) (q26.33;q14)] increases severity of a family-specific PGK1 mutation 253

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David et al., Eur J Hum Genet 21(Supp2)P1078, 2013..pdf 112
ESHG2013_DDavid.pdf 17

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