Varaico: Literature-Extracted Genetic Variants

Gene:SCN7A
Variant:p.R1516K
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SCN7A

NM_002976.4:p.R1516K

Associated Papers

Sacral agenesis: a pilot whole exome sequencing and copy number study.

Porsch RM et al.

Bmc Medical Genetics, 2016

28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › all_variants

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 341.162

A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Chen YC et al.

Plos Computational Biology, 2014

25188385 (PubMed )
Supplement: pcbi.1003825.s014.xlsx › TableS12

Genomic analysis of 21 patients with corneal neuralgia after refractive surgery.

Yuan JH et al.

Pain Reports, 0

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