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RET c.1699_1701delinsCAA ;(p.D567Q)
Variant ID: 10-43608351-GAC-CAA
NM_020975.4(
RET
):c.1699_1701delinsCAA;(p.D567Q)
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:
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
Journal Of The American Society Of Nephrology : Jasn
Heidet, Laurence L; Morinière, Vincent V; Henry, Charline C; De Tomasi, Lara L; Reilly, Madeline Louise ML; Humbert, Camille C; Alibeu, Olivier O; Fourrage, Cécile C; Bole-Feysot, Christine C; Nitschké, Patrick P; Tores, Frédéric F; Bras, Marc M; Jeanpierre, Marc M; Pietrement, Christine C; Gaillard, Dominique D; Gonzales, Marie M; Novo, Robert R; Schaefer, Elise E; Roume, Joëlle J; Martinovic, Jelena J; Malan, Valérie V; Salomon, Rémi R; Saunier, Sophie S; Antignac, Corinne C; Jeanpierre, Cécile C
Publication Date: 2017-10
Variant appearance in text: RET: Asp567Gln
PubMed Link:
28566479
Variant Present in the following documents:
Main text
View BVdb publication page