Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.D242N
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HFE

NM_000410.4:p.D242N

Associated Papers

HFE gene: Structure, function, mutations, and associated iron abnormalities.

Barton JC et al.

Gene, 2015

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Kenna KP et al.

Journal of Medical Genetics, 2013

23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf

HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants.

Barton JC et al.

American Journal of Hematology, 2009

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