Publications:

Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias.

European Journal Of Human Genetics : Ejhg

Broendberg, Anders Krogh AK; Christiansen, Morten Krogh MK; Nielsen, Jens Cosedis JC; Pedersen, Lisbeth Noerum LN; Jensen, Henrik Kjaerulf HK

Publication Date: 2018-03

Variant appearance in text: SCN5A: 2291T>G; Met764Arg

PubMed Link: 29343803

Variant Present in the following documents:

• Main text
• 41431_2017_Article_60.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: M764R

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

View BVdb publication page