Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: HFE: D129N; rs200706856

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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

Gene

Barton, James C JC; Edwards, Corwin Q CQ; Acton, Ronald T RT

Publication Date: 2015-12-15

Variant appearance in text: HFE: D129N

PubMed Link: 26456104

Variant Present in the following documents:

• Main text

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: HFE: Asp129Asn

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: HFE: Asp129Asn

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

View BVdb publication page