Publications:

Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study.

Current Issues In Molecular Biology

Togi, Sumihito S; Ura, Hiroki H; Niida, Yo Y

Publication Date: 2021-07-23

Variant appearance in text: rs199474743

PubMed Link: 34449562

Variant Present in the following documents:

• cimb-43-00057.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: NF1: 4465A>G; Ser1489Gly

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Establishment and characterization of patient-derived cancer models of malignant peripheral nerve sheath tumors.

Cancer Cell International

Oyama, Rieko R; Kito, Fusako F; Takahashi, Mami M; Hattori, Emi E; Noguchi, Rei R; Takai, Yoko Y; Sakumoto, Marimu M; Qiao, Zhiwei Z; Toki, Shunichi S; Sugawara, Masato M; Tanzawa, Yoshikazu Y; Kobayashi, Eisuke E; Nakatani, Fumihiko F; Iwata, Shintaro S; Yoshida, Akihiko A; Kawai, Akira A; Kondo, Tadashi T

Publication Date: 2020

Variant appearance in text: NF1: S1489G; rs199474743

PubMed Link: 32099531

Variant Present in the following documents:

• 12935_2020_1128_MOESM3_ESM.xlsx, sheet 1
• 12935_2020_1128_MOESM4_ESM.xlsx, sheet 1

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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: NF1: S1489G; rs199474743

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology

Kiel, Christina C; Serrano, Luis L

Publication Date: 2014-05-06

Variant appearance in text: NF1: S1489G

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

View BVdb publication page