Publications:

Acute intermittent porphyria: prevalence of pathogenic HMBS variants in China, and epidemiological survey in Hebei Province, China.

Annals Of Translational Medicine

Ma, Liyan L; Tian, Yu Y; Qi, Xuan X; Li, Pei P; Li, Jie J; Teng, Qing Q; Ma, Yuelin Y; Zhang, Songyun S

Publication Date: 2022-05

Variant appearance in text: HMBS: 3G>A

PubMed Link: 35722412

Variant Present in the following documents:

• Main text
• atm-10-10-560.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: HMBS: 3G>A; rs781901249

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: HMBS: 3G>A

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

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Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.

Human Mutation

Chen, Brenden B; Solis-Villa, Constanza C; Hakenberg, Jörg J; Qiao, Wanqiong W; Srinivasan, Ramakrishnan R RR; Yasuda, Makiko M; Balwani, Manisha M; Doheny, Dana D; Peter, Inga I; Chen, Rong R; Desnick, Robert J RJ

Publication Date: 2016-11

Variant appearance in text: HMBS: 3G>A; M1I

PubMed Link: 27539938

Variant Present in the following documents:

• Main text

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