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RET c.2752A>C ;(p.M918L)
Variant ID: 10-43617415-A-C
NM_020975.4(
RET
):c.2752A>C;(p.M918L)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: RET: M918L
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.
Plos One
Crona, Joakim J; Ljungström, Viktor V; Welin, Staffan S; Walz, Martin K MK; Hellman, Per P; Björklund, Peyman P
Publication Date: 2015
Variant appearance in text: RET: Met918Leu
PubMed Link:
26230854
Variant Present in the following documents:
Main text
pone.0133210.pdf
View BVdb publication page