NF1 c.4183C>A ;(p.Q1395K)

Variant ID: 17-29585371-C-A

NM_001042492.2(NF1):c.4183C>A;(p.Q1395K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.

Journal Of Epilepsy Research
Rahman, Md Mizanur MM; Fatema, Kanij K
Publication Date: 2021-06

Variant appearance in text: NF1: 4183C>A; Gln1395Lys
PubMed Link: 34395220
Variant Present in the following documents:
  • Main text
View BVdb publication page