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: 794_795insGTAT

PubMed Link: 33333793

Variant Present in the following documents:

• Main text
• jpm-10-00281.pdf

View BVdb publication page