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: TG: 412T>A

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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Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology

Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M

Publication Date: 2023-03-03

Variant appearance in text: TG: 412T>A

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8

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: TG: 412T>A

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Impaired Glycine Receptor Trafficking in Neurological Diseases.

Frontiers In Molecular Neuroscience

Schaefer, Natascha N; Roemer, Vera V; Janzen, Dieter D; Villmann, Carmen C

Publication Date: 2018

Variant appearance in text: TGN: C138S

PubMed Link: 30186111

Variant Present in the following documents:

• Main text
• fnmol-11-00291.pdf

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: TG: 412T>A

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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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

Plos Genetics

Wangler, Michael F MF; Gonzaga-Jauregui, Claudia C; Gambin, Tomasz T; Penney, Samantha S; Moss, Timothy T; Chopra, Atul A; Probst, Frank J FJ; Xia, Fan F; Yang, Yaping Y; Werlin, Steven S; Eglite, Ieva I; Kornejeva, Liene L; Bacino, Carlos A CA; Baldridge, Dustin D; Neul, Jeff J; Lehman, Efrat Lev EL; Larson, Austin A; Beuten, Joke J; Muzny, Donna M DM; Jhangiani, Shalini S; , ; Gibbs, Richard A RA; Lupski, James R JR; Beaudet, Arthur A

Publication Date: 2014-03

Variant appearance in text: TG: 412T>A

PubMed Link: 24676022

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of human hyperekplexia mutations on glycine receptor structure and function.

Molecular Brain

Bode, Anna A; Lynch, Joseph W JW

Publication Date: 2014-01-09

Variant appearance in text: N/A

PubMed Link: 24405574

Variant Present in the following documents:

View BVdb publication page

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