Publications:

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MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology

Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H

Publication Date: 2021-12-15

Variant appearance in text: SMARCA4: 4844G>A; Arg1615Gln

PubMed Link: 34912045

Variant Present in the following documents:

• 42003_2021_2930_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology

Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H

Publication Date: 2021-12-15

Variant appearance in text: SMARCA4: 4844G>A; Arg1615Gln

PubMed Link: 34912045

Variant Present in the following documents:

• 42003_2021_2930_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Genomic evidence suggests that cutaneous neuroendocrine carcinomas can arise from squamous dysplastic precursors.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Harms, Paul W PW; Verhaegen, Monique E ME; Hu, Kevin K; Hrycaj, Steven M SM; Chan, May P MP; Liu, Chia-Jen CJ; Grachtchouk, Marina M; Patel, Rajiv M RM; Udager, Aaron M AM; Dlugosz, Andrzej A AA

Publication Date: 2022-04

Variant appearance in text: SMARCA4: R1615Q

PubMed Link: 34593967

Variant Present in the following documents:

• NIHMS1739265-supplement-Supplemental_Tables.xlsx, sheet 4

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: SMARCA4: 4844G>A; Arg1615Gln; rs1278313953

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: SMARCA4: 4844G>A; Arg1615Gln; rs1278313953

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.

Nature Communications

Fernando, Tharu M TM; Piskol, Robert R; Bainer, Russell R; Sokol, Ethan S ES; Trabucco, Sally E SE; Zhang, Qing Q; Trinh, Huong H; Maund, Sophia S; Kschonsak, Marc M; Chaudhuri, Subhra S; Modrusan, Zora Z; Januario, Thomas T; Yauch, Robert L RL

Publication Date: 2020-11-03

Variant appearance in text: SMARCA4: R1615Q

PubMed Link: 33144586

Variant Present in the following documents:

• 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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NF1 mutations in conjunctival melanoma.

British Journal Of Cancer

Scholz, S L SL; Cosgarea, I I; Süßkind, D D; Murali, R R; Möller, I I; Reis, H H; Leonardelli, S S; Schilling, B B; Schimming, T T; Hadaschik, E E; Franklin, C C; Paschen, A A; Sucker, A A; Steuhl, K P KP; Schadendorf, D D; Westekemper, H H; Griewank, K G KG

Publication Date: 2018-05

Variant appearance in text: SMARCA4: Arg1615Gln

PubMed Link: 29559732

Variant Present in the following documents:

• 41416_2018_46_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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