FBN1 c.119G>A ;(p.S40N)

Variant ID: 15-48936848-C-T

NM_000138.4(FBN1):c.119G>A;(p.S40N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study.

Journal Of Personalized Medicine
Hong, Syuan-Yu SY; Yang, Jiann-Jou JJ; Li, Shuan-Yow SY; Lee, Inn-Chi IC
Publication Date: 2020-12-15

Variant appearance in text: FBN1: 119G>A
PubMed Link: 33333793
Variant Present in the following documents:
  • Main text
  • jpm-10-00281.pdf
View BVdb publication page