Varaico: Literature-Extracted Genetic Variants

Gene:TJP2
Variant:p.P267L
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TJP2

NM_004817.4:p.P267L

Associated Papers

Overactive BRCA1 Affects Presenilin 1 in Induced Pluripotent Stem Cell-Derived Neurons in Alzheimer's Disease.

Wezyk M et al.

Journal of Alzheimer's Disease : Jad, 2018

29439343 (PubMed )
Supplement: sj-docx-13-alz-10.3233_jad-170830.docx

Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.

Liu R et al.

Scientific Reports, 2017

28835676 (PubMed )
Supplement: 41598_2017_7012_MOESM1_ESM.doc
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