Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.S378P
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SGSH

NM_000199.5:p.S378P

Associated Papers

Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.

Cormier-Daire V et al.

Journal of Medical Genetics, 2000

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.

Beesley CE et al.

Journal of Medical Genetics, 2000

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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."