Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.L296delFs
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NAGLU

NM_000263.4:p.L296delFs

Associated Papers

Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.

Montenegro YHA et al.

American Journal of Medical Genetics. Part A, 2022

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.s005.xlsx › All_Variants
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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."