Varaico: Literature-Extracted Genetic Variants

Gene:RELN
Variant:p.K2972T
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RELN

NM_005045.4:p.K2972T

Associated Papers

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.

Di Donato N et al.

Brain : a Journal of Neurology, 2022

Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder.

Koshimizu E et al.

Plos One, 2013

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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."