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References from CLCN6 mutation in an Indian patient with rapidly progressive dementia. Local targets link to admitted publications; unresolved targets remain external evidence.
A method and server for predicting damaging missense mutations.
10.1038/nmeth0410-248 · 2010 · External reference
A global reference for human genetic variation.
10.1038/nature15393 · 2015 · External reference
Neurodegeneration upon dysfunction of endosomal/lysosomal CLC chloride transporters.
10.3389/fcell.2021.639231 · 2021 · External reference
Steroid-responsive encephalopathy associated with autoimmune thyroiditis.
10.1001/archneur.63.2.197 · 2006 · External reference
Identifying a high fraction of the human genome to be under selective pressure.
10.1371/journal.pcbi.1001025 · 2010 · External reference
West syndrome caused by a chloride/proton exchange-uncoupling CLCN6 mutation related to autophagic-lysosomal dysfunction.
10.1007/s12035-021-02291-3 · 2021 · External reference
REVEL: an ensemble method for predicting the pathogenicity of rare missense variants.
10.1016/j.ajhg.2016.08.016 · 2016 · External reference
Predicting splicing from primary sequence with deep learning.
10.1016/j.cell.2018.12.015 · 2019 · External reference
The mutational constraint spectrum quantified from variation in 141,456 humans.
10.1038/s41586-020-2308-7 · 2020 · External reference
ClinVar: public archive of relationships among sequence variation and human phenotype.
10.1093/nar/gkt1113 · 2014 · External reference
eP179: expanding the phenotype of CLCN6-associated early-onset neurodegeneration.
10.1016/j.gim.2022.01.215 · 2022 · External reference
Hashimoto encephalopathy in the 21st century.
10.1212/wnl.0000000000008785 · 2020 · External reference
Detection of nonneutral substitution rates on mammalian phylogenies.
10.1101/gr.097857.109 · 2010 · External reference
A recurrent gain-of-function mutation in CLCN6, encoding the ClC-6 Cl−/H+-exchanger, causes early-onset neurodegeneration.
10.1016/j.ajhg.2020.11.004 · 2020 · External reference
Distinct neuropathologic phenotypes after disrupting the chloride transport proteins ClC-6 or ClC-7/Ostm1.
10.1097/nen.0b013e3181ffe742 · 2010 · External reference
CADD: predicting the deleteriousness of variants throughout the human genome.
10.1093/nar/gky1016 · 2019 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
10.1038/gim.2015.30 · 2015 · External reference
Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea coast of Apulia.
10.1038/s41598-021-85494-x · 2021 · External reference
Molecular basis of ClC-6 function and its impairment in human disease.
10.1126/sciadv.adg4479 · 2023 · External reference
