Varaico: Literature-Extracted Genetic Variants

Gene:HPSE2
Variant:p.N15insFs
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HPSE2

NM_021828.5:p.N15insFs

Associated Papers

Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.

Harkness JR et al.

Kidney International Reports, 2020

33102976 (PubMed )
Supplement: mmc1.pdf
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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."