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GC c.1110_1113del ;(p.K370Nfs*22)
Variant ID: 4-72620746-GGCTT-G
NM_000583.3(
GC
):c.1110_1113del;(p.K370Nfs*22)
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:
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.
Journal Of Clinical Medicine
Aldrian, Denise D; Vogel, Georg F GF; Frey, Teresa K TK; Ayyıldız Civan, Hasret H; Aksu, Aysel Ünlüsoy AÜ; Avitzur, Yaron Y; Ramos Boluda, Ester E; Çakır, Murat M; Demir, Arzu Meltem AM; Deppisch, Caroline C; Duba, Hans-Christoph HC; Düker, Gesche G; Gerner, Patrick P; Hertecant, Jozef J; Hornová, Jarmila J; Kathemann, Simone S; Koeglmeier, Jutta J; Koutroumpa, Arsinoi A; Lanzersdorfer, Roland R; Lev-Tzion, Raffi R; Lima, Rosa R; Mansour, Sahar S; Meissl, Manfred M; Melek, Jan J; Miqdady, Mohamad M; Montoya, Jorge Hernan JH; Posovszky, Carsten C; Rachman, Yelena Y; Siahanidou, Tania T; Tabbers, Merit M; Uhlig, Holm H HH; Ünal, Sevim S; Wirth, Stefan S; Ruemmele, Frank M FM; Hess, Michael W MW; Huber, Lukas A LA; Müller, Thomas T; Sturm, Ekkehard E; Janecke, Andreas R AR
Publication Date: 2021-01-28
Variant appearance in text: GC: 1110_1113del
PubMed Link:
33525641
Variant Present in the following documents:
Main text
View BVdb publication page