Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO2
Variant:p.S2690R
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PIEZO2

NM_022068.4:p.S2690R

Associated Papers

PIEZO2-related distal arthrogryposis type 5: Longitudinal follow-up of a three-generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group.

Sherlaw-Sturrock CA et al.

American Journal of Medical Genetics. Part A, 2022

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."