Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R3A
Variant:p.N476K
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PPP1R3A

NM_002711.4:p.N476K

Associated Papers

Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.

Fan C et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018

Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.

Villanueva P et al.

Plos Genetics, 2015

25781923 (PubMed )
Supplement: pgen.1004925.s007.pdf
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