Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO2
Variant:p.W2417C
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PIEZO2

NM_022068.4:p.W2417C

Associated Papers

Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.

Battiston GS et al.

American Journal of Medical Genetics. Part A, 2026

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome.

Seidahmed MZ et al.

American Journal of Medical Genetics. Part A, 2021

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