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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPSE

Variant:p.R254_K255del1

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HPSE

NM_001098540.3:p.R254_K255del1

hg38:chr4:83310800 TTTC>T

Associated Papers

Heparanase 2 and Urofacial Syndrome, a Genetic Neuropathy.

Roberts NA et al.

Advances in Experimental Medicine and Biology, 2020

32274739 (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."