CrossRef Text and Data Mining
Result of CrossRef Text and Data Mining Search is the related articles with entitled article. If you click link1 or link2 you will be able to reach the full text site of selected articles; however, some links do not show the full text immediately at now. If you click CrossRef Text and Data Mining Download icon, you will be able to get whole list of articles from literature included in CrossRef Text and Data Mining.
De Novo SCN8A Pathogenic Variant (c.5630A>G; p.Asn1877Ser) Presenting with a Relatively Mild Phenotype
Eonah Kim, Chang-Seok Ki, Sohye Park, Kyung Yeon Lee
Ann Child Neurol. 2020;28(3):118-121.   Published online March 20, 2020
DOI: https://doi.org/10.26815/acn.2020.00024

Excel Download

De Novo SCN8A Pathogenic Variant (c.5630A>G; p.Asn1877Ser) Presenting with a Relatively Mild Phenotype
Annals of Child Neurology. 2020;28(3):118-121   Crossref logo
Link1 Link2 Link3

A relatively mild phenotype associated with mutation of SCN8A
Seizure. 2018;56:47-49   Crossref logo
Link1 Link2

Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant
Molecular Syndromology. 2019;10(6):344-347   Crossref logo
Link1 Link2

Alterations of functional connectivity density in a Chinese family with a mild phenotype associated with a novel inherited variant of SCN8A
Epilepsy & Behavior. 2020;112:107379   Crossref logo
Link1 Link2

A novel de novo PGM3 pathogenic variant identified in an infant presenting with abnormal TREC assay and severe neutropenia
Molecular Genetics and Metabolism. 2021;132:S178   Crossref logo
Link1 Link2

A de novo pathogenic BMP2 variant‐related phenotype with the novel finding of bicuspid aortic valve
American Journal of Medical Genetics Part A. 2020;185(2):575-578   Crossref logo
Link1 Link2 Link3

Congenital Central Hypoventilation Syndrome Caused by A de novo RET Pathogenic Variant
. 2021;   Crossref logo
Link1 Link2

The Expanding SCN8A-Related Epilepsy Phenotype
Epilepsy Currents. 2015;15(6):333-334   Crossref logo
Link1 Link2 Link3

Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review
Brain and Development. 2020;42(1):77-82   Crossref logo
Link1 Link2

De novo pathogenic germline variant in PALB2 in a patient with pancreatic cancer
Familial Cancer. 2019;19(2):193-196   Crossref logo
Link1 Link2 Link3