KCNQ1 c.1514+38774G>A

Variant ID: 11-2722085-G-A

NM_000218.2(KCNQ1):c.1514+38774G>A

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics.

Clinical Epigenetics
Krzyzewska, I M IM; Alders, M M; Maas, S M SM; Bliek, J J; Venema, A A; Henneman, P P; Rezwan, F I FI; Lip, K V D KVD; Mul, A N AN; Mackay, D J G DJG; Mannens, M M A M MMAM
Publication Date: 2019-03-21

Variant appearance in text: rs190535862
PubMed Link: 30898153
Variant Present in the following documents:
  • Main text
  • 13148_2019_Article_649.pdf
View BVdb publication page