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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLCE1

Variant:p.L1283fs

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PLCE1

NM_016341.4:p.L1283fs

hg38:chr10:94262526 T>TN

Associated Papers

A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability.

Yılmaz EK et al.

Pediatric Nephrology (berlin, Germany), 2022

35034193 (PubMed )

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