Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.A582P
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NAGLU

NM_000263.4:p.A582P

Associated Papers

Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B.

Whitley CB et al.

The Journal of Pediatrics, 2018

Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence.

Clark WT et al.

Plos One, 2018

29979746 (PubMed )
Supplement: pone.0200008.s004.xlsx › Sheet1
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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."