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CALR c.559G>A ;(p.D187N)
Variant ID: 19-13051123-G-A
NM_004343.3(
CALR
):c.559G>A;(p.D187N)
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:
Diagnostic and Treatment Approaches Involving Transthyretin in Amyloidogenic Diseases.
International Journal Of Molecular Sciences
Park, Gil Yong GY; Jamerlan, Angelo A; Shim, Kyu Hwan KH; An, Seong Soo A SSA
Publication Date: 2019-06-18
Variant appearance in text: SSA: Asp187Asn
PubMed Link:
31216785
Variant Present in the following documents:
ijms-20-02982.pdf
View BVdb publication page
Animal models of human amyloidoses: are transgenic mice worth the time and trouble?
Febs Letters
Buxbaum, Joel N JN
Publication Date: 2009-08-20
Variant appearance in text: SSA: D187N
PubMed Link:
19627988
Variant Present in the following documents:
Main text
View BVdb publication page