Varaico: Literature-Extracted Genetic Variants

Gene:CLHC1
Variant:p.D462Splc
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CLHC1

NM_152385.4:p.D462Splc

Associated Papers

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL21__PON_in_red_

Metabolites downstream of predicted loss-of-function variants inform relationship to disease.

Li M et al.

Molecular Genetics and Metabolism, 2019

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.

Emdin CA et al.

Nature Communications, 2018

Exome Pool-Seq in neurodevelopmental disorders.

Popp B et al.

European Journal of Human Genetics : Ejhg, 2017

29158550 (PubMed )
Supplement: 41431_2017_22_MOESM7_ESM.xlsx › Cand_LOF_inhAR
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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."