Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.L360R
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SULF1

NM_001128205.2:p.L360R

Associated Papers

Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI.

Chan MJ et al.

The Journal of Pediatrics, 2019

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.

Chassaing N et al.

Genome Research, 2016

26893459 (PubMed )
Supplement: supp_gr.196048.115_Supp_Tables_2-7.docx
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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."