Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO2
Variant:p.S2690R
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PIEZO2

NM_022068.4:p.S2690R

Associated Papers

Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.

Aref-Eshghi E et al.

Journal of Human Genetics, 2021

Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family.

Zapata-Aldana E et al.

American Journal of Medical Genetics. Part A, 2019

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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."