Varaico: Literature-Extracted Genetic Variants

Gene:GRIN3A
Variant:p.R1111Q
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GRIN3A

NM_133445.3:p.R1111Q

Associated Papers

Hypotonia-cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression.

Towheed A et al.

Annals of Clinical and Translational Neurology, 2021

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 343.163
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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."