Varaico: Literature-Extracted Genetic Variants

Gene:COL4A2
Variant:p.G1377R
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COL4A2

NM_001846.4:p.G1377R

Associated Papers

Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy.

Bakhtiari S et al.

Neurology. Genetics, 2021

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Cavallin M et al.

European Journal of Medical 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."