Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.I263V
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NPHS2

NM_014625.4:p.I263V

Associated Papers

Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.

Wilke MVMB et al.

Orphanet Journal of Rare Diseases, 2024

38790019 (PubMed )
Supplement: 13023_2024_3213_MOESM2_ESM.pdf

TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.

da Silva EM et al.

Npj Breast Cancer, 2021

33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.pdf
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