Varaico: Literature-Extracted Genetic Variants

Gene:CHL1
Variant:p.L17F
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CHL1

NM_006614.4:p.L17F

Associated Papers

Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.

Rajeh A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808834 (PubMed )
Supplement: media-2.xlsx › pnSomatic_supplement_tableS2

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM4_ESM.xlsx › Sheet1

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A0AD-01A.domain

The L1 family of cell adhesion molecules: a sickening number of mutations and protein functions.

Hortsch M et al.

Advances in Neurobiology, 2014

Significant association of close homologue of L1 gene polymorphism rs2272522 with schizophrenia in Qatar.

Shaltout TE et al.

Asia-pacific Psychiatry : Official Journal of the Pacific Rim College of Psychiatrists, 2013

Hereditary prostate cancer in Finland: fine-mapping validates 3p26 as a major predisposition locus.

Rökman A et al.

Human Genetics, 2005

CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior.

Frints SG et al.

Human Molecular Genetics, 2003

An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophrenia.

Sakurai K et al.

Molecular Psychiatry, 2002

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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."