Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Regulation of Kv2.1 Channels by Kv9.1 Variants.
Choudhury H et al.
Biomedicines, 2025
KCNG4 Genetic Variant Linked to Migraine Prevents Expression of KCNB1.
Lacroix G et al.
International Journal of Molecular Sciences, 2024
Mutation profiling in eight cases of vagal paragangliomas.
Kudryavtseva AV et al.
Bmc Medical Genomics, 2020
32948195 (PubMed )
Supplement: 12920_2020_763_MOESM1_ESM.xls › Pat7
Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel KV6.4 Subunit.
Lee MC et al.
Cell Reports, 2020
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.
Weiss K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
28640243 (PubMed )
Supplement: gim201768x1.xlsx › All
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
Villa F et al.
Immunity & Ageing : I & A, 2014
25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
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