Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.T74I
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PSEN1

NM_000021.4:p.T74I

Associated Papers

Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing.

Fang X et al.

Journal of Cellular and Molecular Medicine, 2020

Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias.

Broendberg AK et al.

European Journal of Human Genetics : Ejhg, 2018

29343803 (PubMed )
Supplement: 41431_2017_60_MOESM1_ESM.docx
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."