Publications:

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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: GAA: 853C>T

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: GAA: 853C>T

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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Genomic characterization between strains selected for death-feigning duration for avoiding attack of a beetle.

Scientific Reports

Tanaka, Keisuke K; Sasaki, Ken K; Matsumura, Kentarou K; Yajima, Shunsuke S; Miyatake, Takahisa T

Publication Date: 2021-11-08

Variant appearance in text: GAA: 853C>T

PubMed Link: 34750398

Variant Present in the following documents:

• 41598_2021_987_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines

Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA

Publication Date: 2021-08-20

Variant appearance in text: GAA: 853C>T

PubMed Link: 34417462

Variant Present in the following documents:

• 41541_2021_358_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: GAA: 853C>T; Pro285Ser; rs886042086

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.

Molecular Genetics And Metabolism Reports

Park, Kyung Sun KS

Publication Date: 2021-06

Variant appearance in text: GAA: 853C>T; Pro285Ser

PubMed Link: 33717985

Variant Present in the following documents:

• Main text
• mmc1.xlsx, sheet 1
• main.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: GAA: P285S

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation

Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,

Publication Date: 2019-11

Variant appearance in text: GAA: 853C>T; Pro285Ser

PubMed Link: 31342611

Variant Present in the following documents:

• HUMU-40-2146-s001.pdf

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Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

Annals Of Clinical And Translational Neurology

Nallamilli, Babi Ramesh Reddy BRR; Chakravorty, Samya S; Kesari, Akanchha A; Tanner, Alice A; Ankala, Arunkanth A; Schneider, Thomas T; da Silva, Cristina C; Beadling, Randall R; Alexander, John J JJ; Askree, Syed Hussain SH; Whitt, Zachary Z; Bean, Lora L; Collins, Christin C; Khadilkar, Satish S; Gaitonde, Pradnya P; Dastur, Rashna R; Wicklund, Matthew M; Mozaffar, Tahseen T; Harms, Matthew M; Rufibach, Laura L; Mittal, Plavi P; Hegde, Madhuri M

Publication Date: 2018-12

Variant appearance in text: GAA: 853C>T; P285S

PubMed Link: 30564623

Variant Present in the following documents:

• Main text
• ACN3-5-1574.pdf

View BVdb publication page

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Culture-independent genome sequencing of Coxiella burnetii from a native heart valve of a Tunisian patient with severe infective endocarditis.

New Microbes And New Infections

Delaloye, J J; Pillonel, T T; Smaoui, M M; Znazen, A A; Abid, L L; Greub, G G

Publication Date: 2018-01

Variant appearance in text: GAA: 853C>T; Pro285Ser

PubMed Link: 29201381

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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: GAA: P285S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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