Publications:

A novel F8 variant in a Chinese hemophilia A family and involvement of X-chromosome inactivation: A case report.

Medicine

Zhang, Honghong H; Li, Yinjie Y; Lv, Xiaojuan X; Mao, Yuchan Y; Sun, Yixi Y; Xu, Ting T

Publication Date: 2023-05-05

Variant appearance in text: F8: W2065R

PubMed Link: 37145012

Variant Present in the following documents:

• Main text
• medi-102-e33665.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: F8: 6193T>C; Trp2065Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

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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: HEMA: W2065R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: F8: W2065R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.

Journal Of Biomedical Science

Doss C, George Priya GP

Publication Date: 2012-03-16

Variant appearance in text: F8: W2065R; rs137852455

PubMed Link: 22423892

Variant Present in the following documents:

• Main text
• 1423-0127-19-30.pdf

View BVdb publication page