Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A17
Variant:p.I135R
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SLC6A17

NM_001010898.4:p.I135R

Associated Papers

Mutations in SLC6A17 cause autosomal-recessive intellectual disability.

Waltl S

Clinical Genetics, 2015

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

Iqbal Z et al.

American Journal of Human Genetics, 2015

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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."