DBP c.824_826del ;(p.A275_R276delinsG)

Variant ID: 19-49134246-CGGG-C

NM_001352.3(DBP):c.824_826del;(p.A275_R276delinsG)

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: DBP: 824_826del
PubMed Link: 16385454
Variant Present in the following documents:
  • Main text
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