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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEKHG2

Variant:p.R1292W

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PLEKHG2

NM_022835.3:p.R1292W

hg38:chr19:39425007 C>T

Associated Papers

Lateralized periodic discharges due to mutated PLEKHG2 in an infant with congenital nephrotic syndrome: a case report and literature review.

Wang X et al.

Translational Pediatrics, 2025

41367524 (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."