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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHB1

Variant:p.L260Q

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PHB1

NM_002634.4:p.L260Q

hg38:chr17:49405032 A>T

Associated Papers

NPHS2 mutations account for only 15% of nephrotic syndrome cases.

Guaragna MS et al.

Bmc Medical Genetics, 2015

26420286 (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."