Publications:

Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Dickey, Amy K AK; Quick, Corbin C; Ducamp, Sarah S; Zhu, Zhaozhong Z; Feng, Yen-Chen A YA; Naik, Hetanshi H; Balwani, Manisha M; Anderson, Karl E KE; Lin, Xihong X; Phillips, John E JE; Rebeiz, Lina L; Bonkovsky, Herbert L HL; McGuire, Brendan M BM; Wang, Bruce B; Chasman, Daniel I DI; Smoller, Jordan W JW; Fleming, Mark D MD; Christiani, David C DC

Publication Date: 2021-01

Variant appearance in text: FECH: 163G>A

PubMed Link: 32873934

Variant Present in the following documents:

• NIHMS1630820-supplement-Supplementary___Appendix__online_only_material__etc__.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs3848519

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page