Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO1
Variant:p.L626delFs
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PIEZO1

NM_001142864.4:p.L626delFs

Associated Papers

Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.

Glogowska E et al.

Blood, 2017

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00017-Table_S23.xlsx › Ion_Torrent
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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."