Publications:

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HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: GC: 1A>C

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Decoding the pathogenesis of Diamond-Blackfan anemia using single-cell RNA-seq.

Cell Discovery

Wang, Bingrui B; Wang, Chenchen C; Wan, Yang Y; Gao, Jie J; Ma, Yige Y; Zhang, Yingnan Y; Tong, Jingyuan J; Zhang, Yingchi Y; Liu, Jinhua J; Chang, Lixian L; Xu, Changlu C; Shen, Biao B; Chen, Yumei Y; Jiang, Erlie E; Kurita, Ryo R; Nakamura, Yukio Y; Lim, Kim-Chew KC; Engel, James Douglas JD; Zhou, Jiaxi J; Cheng, Tao T; Zhu, Xiaofan X; Zhu, Ping P; Shi, Lihong L

Publication Date: 2022-05-10

Variant appearance in text: GC: 1A>C

PubMed Link: 35534476

Variant Present in the following documents:

• 41421_2022_389_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases

Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U

Publication Date: 2020-11-18

Variant appearance in text: GC: 1A>C

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: GC: 1A>C

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications

Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M

Publication Date: 2017-02-14

Variant appearance in text: GC: 1A>C

PubMed Link: 28195122

Variant Present in the following documents:

• ncomms14433-s3.xlsx, sheet 3

View BVdb publication page

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Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

Cold Spring Harbor Molecular Case Studies

Zastrow, Diane B DB; Zornio, Patricia A PA; Dries, Annika A; Kohler, Jennefer J; Fernandez, Liliana L; Waggott, Daryl D; Walkiewicz, Magdalena M; Eng, Christine M CM; Manning, Melanie A MA; Farrelly, Ellyn E; , ; Fisher, Paul G PG; Ashley, Euan A EA; Bernstein, Jonathan A JA; Wheeler, Matthew T MT

Publication Date: 2017-01

Variant appearance in text: N/A

PubMed Link: 28050602

Variant Present in the following documents:

View BVdb publication page

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