SI c.1558_1559delinsAC ;(p.C520T)

Variant ID: 3-164767617-CA-GT

NM_001041.3(SI):c.1558_1559delinsAC;(p.C520T)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Human Sco1 functional studies and pathological implications of the P174L mutant.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Banci, Lucia L; Bertini, Ivano I; Ciofi-Baffoni, Simone S; Leontari, Iliana I; Martinelli, Manuele M; Palumaa, Peep P; Sillard, Rannar R; Wang, Shenlin S
Publication Date: 2007-01-02

Variant appearance in text: SI: C520T
PubMed Link: 17182746
Variant Present in the following documents:
  • Main text
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