FBN1 c.7030_7032delinsTTT ;(p.L2344F)

Variant ID: 15-48719936-TAG-AAA

NM_000138.4(FBN1):c.7030_7032delinsTTT;(p.L2344F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.

Npj Genomic Medicine
van Eyk, C L CL; Webber, D L DL; Minoche, A E AE; PĂ©rez-Jurado, L A LA; Corbett, M A MA; Gardner, A E AE; Berry, J G JG; Harper, K K; MacLennan, A H AH; Gecz, J J
Publication Date: 2021-09-16

Variant appearance in text: FBN1: L2344F
PubMed Link: 34531397
Variant Present in the following documents:
  • 41525_2021_238_MOESM1_ESM.pdf
View BVdb publication page