Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2D
Variant:p.D449N
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GRIN2D

NM_000836.4:p.D449N

Associated Papers

Identification of a novel GRIN2D variant in a neonate with intractable epileptic encephalopathy-a case report.

Jiao J et al.

Bmc Pediatrics, 2021

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.

XiangWei W et al.

Brain : a Journal of Neurology, 2019

GRIN2D variants in three cases of developmental and epileptic encephalopathy.

Tsuchida N et al.

Clinical Genetics, 2018

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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."