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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIEZO2

Variant:p.S1389_I1390Splc

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PIEZO2

NM_001378183.1:p.S1389_I1390Splc

hg38:chr18:10752635 C>T

Associated Papers

Novel Homozygous PIEZO2 Splice Site Mutation Causing Distal Arthrogryposis with Impaired Proprioception.

Acharya R et al.

Indian Journal of Pediatrics, 2025

41212491 (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."