Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.E446K
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NAGLU

NM_000263.4:p.E446K

Associated Papers

Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB.

Guan J et al.

Stem Cell Research, 2021

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Cheema H et al.

Npj Genomic Medicine, 2020

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

Sanfilippo B syndrome: molecular defects in Greek patients.

Beesley C et al.

Clinical Genetics, 2004

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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."