SCN1A c.37_38delinsGA ;(p.S13D)

Variant ID: 2-166930094-CT-TC

NM_001165963.1(SCN1A):c.37_38delinsGA;(p.S13D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Genome Medicine
Yépez, Vicente A VA; Gusic, Mirjana M; Kopajtich, Robert R; Mertes, Christian C; Smith, Nicholas H NH; Alston, Charlotte L CL; Ban, Rui R; Beblo, Skadi S; Berutti, Riccardo R; Blessing, Holger H; Ciara, Elżbieta E; Distelmaier, Felix F; Freisinger, Peter P; Häberle, Johannes J; Hayflick, Susan J SJ; Hempel, Maja M; Itkis, Yulia S YS; Kishita, Yoshihito Y; Klopstock, Thomas T; Krylova, Tatiana D TD; Lamperti, Costanza C; Lenz, Dominic D; Makowski, Christine C; Mosegaard, Signe S; Müller, Michaela F MF; Muñoz-Pujol, Gerard G; Nadel, Agnieszka A; Ohtake, Akira A; Okazaki, Yasushi Y; Procopio, Elena E; Schwarzmayr, Thomas T; Smet, Joél J; Staufner, Christian C; Stenton, Sarah L SL; Strom, Tim M TM; Terrile, Caterina C; Tort, Frederic F; Van Coster, Rudy R; Vanlander, Arnaud A; Wagner, Matias M; Xu, Manting M; Fang, Fang F; Ghezzi, Daniele D; Mayr, Johannes A JA; Piekutowska-Abramczuk, Dorota D; Ribes, Antonia A; Rötig, Agnès A; Taylor, Robert W RW; Wortmann, Saskia B SB; Murayama, Kei K; Meitinger, Thomas T; Gagneur, Julien J; Prokisch, Holger H
Publication Date: 2022-04-05

Variant appearance in text: SCN1A: S13D
PubMed Link: 35379322
Variant Present in the following documents:
  • Main text
  • 13073_2022_Article_1019.pdf
View BVdb publication page