Varaico: Literature-Extracted Genetic Variants

Gene:CDH11
Variant:p.Y273*
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CDH11

NM_001797.4:p.Y273*

Associated Papers

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

van Jaarsveld RH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

36322151 (PubMed )
Supplement: NIHMS1860492-supplement-Supplemental_Table_1.xlsx › clinical_table

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Reijnders MRF et al.

Nature Communications, 2017

29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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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."