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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSEN1

Variant:p.I143_V144del1

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PSEN1

NM_000021.4:p.I143_V144del1

hg38:chr14:73173654 ATTG>A

Associated Papers

Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.

Cogal AG et al.

Kidney International Reports, 2021

34805638 (PubMed )

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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."