Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.R184H
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KCTD7

NM_153033.5:p.R184H

Associated Papers

Incidental and secondary findings in trio exome sequencing.

Cohen C et al.

Genes & Diseases, 2024

38523675 (PubMed )
Supplement: mmc3.pdf

KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.

Yoganathan S et al.

Epilepsia, 2024

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.

Zhao YW et al.

Frontiers in Aging Neuroscience, 2021

34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
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