Publications:

Predicting functional effects of ion channel variants using new phenotypic machine learning methods.

Plos Computational Biology

Boßelmann, Christian Malte CM; Hedrich, Ulrike B S UBS; Lerche, Holger H; Pfeifer, Nico N

Publication Date: 2023-03-06

Variant appearance in text: SCN5A: F543L

PubMed Link: 36877742

Variant Present in the following documents:

• pcbi.1010959.s004.pdf

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: LQT3: F543L

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

View BVdb publication page