Publications:

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Combined Factor V and VIII Deficiency with LMAN1 Mutation: A Report of 3 Saudi Siblings.

The American Journal Of Case Reports

Alsheikh, Shahad S; Alghamdi, Rizam R; Alqatari, Ahlam A; Alfareed, Abdullah A; AlSaleh, Mona M

Publication Date: 2022-09-18

Variant appearance in text: FVIII: 822G>A

PubMed Link: 36116005

Variant Present in the following documents:

• Main text
• amjcaserep-23-e937312.pdf

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Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Feng, Yin Y; Li, Qianqian Q; Shi, Panlai P; Liu, Ning N; Kong, Xiangdong X; Guo, Ruixia R

Publication Date: 2021-01

Variant appearance in text: F8: 822G>A; Trp274Ter

PubMed Link: 33245802

Variant Present in the following documents:

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Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis

Guo, Zhiping Z; Yang, Linhua L; Qin, Xiuyu X; Liu, Xiue X; Zhang, Yaofang Y

Publication Date: 2018-01

Variant appearance in text: FVIII: 822G>A

PubMed Link: 28056528

Variant Present in the following documents:

• Main text

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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: rs34371500

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Three novel F8 mutations in sporadic haemophilia A cases.

Springerplus

Hussain, Rashid R; Abid, Noman Bin NB; Hussain, Sajjad S; Shaukat, Zeeshan Z; Altaf, Mudassir M; Altaf, Sara S; Niazi, Gulzar G

Publication Date: 2012

Variant appearance in text: rs34371500

PubMed Link: 23961341

Variant Present in the following documents:

• Main text

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Common variants within MECP2 confer risk of systemic lupus erythematosus.

Plos One

Sawalha, Amr H AH; Webb, Ryan R; Han, Shizhong S; Kelly, Jennifer A JA; Kaufman, Kenneth M KM; Kimberly, Robert P RP; Alarcón-Riquelme, Marta E ME; James, Judith A JA; Vyse, Timothy J TJ; Gilkeson, Gary S GS; Choi, Chan-Bum CB; Scofield, R Hal RH; Bae, Sang-Cheol SC; Nath, Swapan K SK; Harley, John B JB

Publication Date: 2008-03-05

Variant appearance in text: rs34371500

PubMed Link: 18320046

Variant Present in the following documents:

• Main text
• pone.0001727.pdf

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