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SLC40A1 c.263G>C ;(p.R88T)
Variant ID: 2-190439895-C-G
NM_014585.5(
SLC40A1
):c.263G>C;(p.R88T)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.
Pharmaceuticals (Basel, Switzerland)
Vlasveld, L Tom LT; Janssen, Roel R; Bardou-Jacquet, Edouard E; Venselaar, Hanka H; Hamdi-Roze, Houda H; Drakesmith, Hal H; Swinkels, Dorine W DW
Publication Date: 2019-09-09
Variant appearance in text: FPN1: Arg88Thr
PubMed Link:
31505869
Variant Present in the following documents:
Main text
pharmaceuticals-12-00132.pdf
View BVdb publication page
Ferroportin disease: pathogenesis, diagnosis and treatment.
Haematologica
Pietrangelo, Antonello A
Publication Date: 2017-12
Variant appearance in text: SLC40A1: 263G>C
PubMed Link:
29101207
Variant Present in the following documents:
1021972.pdf
View BVdb publication page
Non-HFE hemochromatosis.
Revista Brasileira De Hematologia E Hemoterapia
Santos, Paulo Caleb Júnior de Lima PC; Dinardo, Carla Luana CL; Cançado, Rodolfo Delfini RD; Schettert, Isolmar Tadeu IT; Krieger, José Eduardo JE; Pereira, Alexandre Costa AC
Publication Date: 2012
Variant appearance in text: SLC40A1: Arg88Thr
PubMed Link:
23049448
Variant Present in the following documents:
Main text
rbhh-34-311.pdf
View BVdb publication page
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
International Journal Of Molecular Sciences
Santos, Paulo C J L PC; Krieger, Jose E JE; Pereira, Alexandre C AC
Publication Date: 2012
Variant appearance in text: SLC40A1: Arg88Thr
PubMed Link:
22408404
Variant Present in the following documents:
Main text
ijms-13-01497.pdf
View BVdb publication page
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
International Journal Of Molecular Sciences
Santos, Paulo C J L PCJL; Krieger, Jose E JE; Pereira, Alexandre C AC
Publication Date: 2012
Variant appearance in text: SLC40A1: Arg88Thr
PubMed Link:
22408404
Variant Present in the following documents:
Main text
ijms-13-01497.pdf
View BVdb publication page