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Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function';

Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function

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A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways';

A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways

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Loss of p300 and CBP disrupts histone acetylation at the mouse Sry promoter and causes XY gonadal sex reversal';

Loss of p300 and CBP disrupts histone acetylation at the mouse Sry promoter and causes XY gonadal sex reversal

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Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety';

Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety

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Cinacalcet corrects hypercalcemia in mice with an inactivating Galpha11 mutation';

Cinacalcet corrects hypercalcemia in mice with an inactivating Galpha11 mutation

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Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy';

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy

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N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss-of-Function Mice';

N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss-of-Function Mice

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Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice';

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice

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Mutant mice with calcium-sensing receptor (CaSR) activation have hyperglycemia, that is rectified by calcilytic therapy';

Mutant mice with calcium-sensing receptor (CaSR) activation have hyperglycemia, that is rectified by calcilytic therapy

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A mutation in Nischarin causes otitis media via LIMK1 and NF-kappaB pathways';

A mutation in Nischarin causes otitis media via LIMK1 and NF-kappaB pathways

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