TSPAN7 c.652G>T ;(p.G218*)

Variant ID: X-38540512-G-T

NM_004615.3(TSPAN7):c.652G>T;(p.G218*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

American Journal Of Human Genetics
Ferdinandusse, Sacha S; Ylianttila, Mari S MS; Gloerich, Jolein J; Koski, M Kristian MK; Oostheim, Wendy W; Waterham, Hans R HR; Hiltunen, J Kalervo JK; Wanders, Ronald J A RJ; Glumoff, Tuomo T
Publication Date: 2006-01

Variant appearance in text:
PubMed Link: 16385454
Variant Present in the following documents:
  • Main text
View BVdb publication page