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Academic Journal

A novel de novo nonsense mutation in ZC4H2 causes Wieacker‐Wolff Syndrome.

  • Source: Molecular Genetics & Genomic Medicine. Feb2020, Vol. 8 Issue 2, pN.PAG-N.PAG. 1p.

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Academic Journal

Recidiverende meningokoksygdom hos kvinde med mutation i C8B-genet ; Recurrent meningococcal infection in a young woman with a mutation in the C8B gene

  • Source: Andersen , U Ø , Bay , J T & Jensen , L H 2023 , ' Recidiverende meningokoksygdom hos kvinde med mutation i C8B-genet ' , Ugeskrift for Laeger , bind 185 , nr. 1 ,

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Academic Journal

The loss-of-function disease-mutation G301R in the Na+/K+-ATPase α2 isoform decreases lesion volume and improves functional outcome after acute spinal cord injury in mice.

  • Source: Ellman , D , Isaksen , T J , Lund , M , Dursun , S , Wirenfeldt , M , Wirenfeldt , M , Jørgensen , L , Lykke-Hartmann , K & Lambertsen , K 2017 , ' The loss-of-function disease-

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Academic Journal

Skadelig mutation nedsætter frughtbarheden hos de røde racer

  • Source: Sahana , G & Pedersen , L D 2014 , ' Skadelig mutation nedsætter frughtbarheden hos de røde racer ' , Ny KvægForskning , bind 2 , s. 2-3 .

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