RNF5 c.101C>T ;(p.A34V)

Variant ID: 6-32146389-C-T

NM_006913.3(RNF5):c.101C>T;(p.A34V)

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
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