Varaico: Literature-Extracted Genetic Variants

Gene:RELN
Variant:p.L1734V
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RELN

NM_005045.4:p.L1734V

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

International consensus recommendations on the diagnostic work-up for malformations of cortical development.

Oegema R et al.

Nature Reviews. Neurology, 2020

32895508 (PubMed )
Supplement: 41582_2020_395_MOESM1_ESM.pdf

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Di Donato N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29671837 (PubMed )
Supplement: NIHMS934304-supplement-Supplementary_table_2.pdf
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