Associated Papers
A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy.
Ygberg S et al.
The Journal of Biological Chemistry, 2021
34717959 (PubMed )
Supplement: mmc1.pdf
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
Tiwari A et al.
Scientific Reports, 2016
27353947 (PubMed )
Supplement: srep28755-s1.pdf
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1843.647
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