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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ESPNL

Variant:p.R825Q

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ESPNL

NM_194312.4:p.R825Q

hg38:chr2:238131188 G>A

Associated Papers

Interstitial cystitis: a phenotype and rare variant exome sequencing study.

Motelow JE et al.

Ebiomedicine, 2026

41713163 (PubMed )

Supplement: mmc1.pdf

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