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JAK2 c.159T>G ;(p.D53E)
Variant ID: 9-5022146-T-G
NM_004972.3(
JAK2
):c.159T>G;(p.D53E)
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:
Genetic polymorphisms associated with telomere length and risk of developing myeloproliferative neoplasms.
Blood Cancer Journal
Giaccherini, Matteo M; Macauda, Angelica A; Sgherza, Nicola N; Sainz, Juan J; Gemignani, Federica F; Maldonado, Josè Manuel Sanchez JMS; Jurado, Manuel M; Tavano, Francesca F; Mazur, Grzegorz G; Jerez, Andrés A; Góra-Tybor, Joanna J; Gołos, Aleksandra A; Mohedo, Francisca Hernández FH; Lopez, Joaquin Martinez JM; Várkonyi, Judit J; Spadano, Raffaele R; Butrym, Aleksandra A; Canzian, Federico F; Campa, Daniele D
Publication Date: 2020-09-01
Variant appearance in text: JAK2: D53E
PubMed Link:
32873778
Variant Present in the following documents:
Main text
View BVdb publication page