Varaico: Literature-Extracted Genetic Variants

Gene:IDS
Variant:p.H342Q
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IDS

NM_000202.8:p.H342Q

Associated Papers

Further cases of "neighbor" mutations in mucopolysaccharidosis type II.

Schwartz IV et al.

American Journal of Medical Genetics. Part A, 2006

Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing.

Timms KM et al.

Journal of Medical Genetics, 1998

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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."