Varaico: Literature-Extracted Genetic Variants

Gene:PTBP1
Variant:p.S288L
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PTBP1

NM_002819.5:p.S288L

Associated Papers

Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease.

Kim YW et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021

33576571 (PubMed )
Supplement: ALZ-17-831-s002.xlsx › Table_S8

Molecular insights into the coding region mutations of low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia.

Shaik NA et al.

The Journal of Gene Medicine, 2020

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