Publications:

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Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13, a Component of the Retention and Splicing (RES) Complex.

Brain Sciences

Andres, Erin M EM; Earnest, Kathleen Kelsey KK; Zhong, Cuncong C; Rice, Mabel L ML; Raza, Muhammad Hashim MH

Publication Date: 2021-12-30

Variant appearance in text: BUD13: 64G>T; Ala22Ser; rs35585096

PubMed Link: 35053791

Variant Present in the following documents:

• Main text
• brainsci-12-00047.pdf

View BVdb publication page

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Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13, a Component of the Retention and Splicing (RES) Complex.

Brain Sciences

Andres, Erin M EM; Earnest, Kathleen Kelsey KK; Zhong, Cuncong C; Rice, Mabel L ML; Raza, Muhammad Hashim MH

Publication Date: 2021-12-30

Variant appearance in text: BUD13: 64G>T; Ala22Ser; rs35585096

PubMed Link: 35053791

Variant Present in the following documents:

• Main text
• brainsci-12-00047.pdf

View BVdb publication page

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Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: BUD13: A22S

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 4
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications

Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R

Publication Date: 2020-05-20

Variant appearance in text: BUD13: 64G>T; Ala22Ser; rs35585096

PubMed Link: 32433464

Variant Present in the following documents:

• 41467_2020_16399_MOESM7_ESM.xlsx, sheet 1
• 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: BUD13: 64G>T; Ala22Ser; rs35585096

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Association of the variants in the BUD13-ZNF259 genes and the risk of hyperlipidaemia.

Journal Of Cellular And Molecular Medicine

Aung, Lynn Htet Htet LH; Yin, Rui-Xing RX; Wu, Dong-Feng DF; Wang, Wei W; Liu, Cheng-Wu CW; Pan, Shang-Ling SL

Publication Date: 2014-07

Variant appearance in text: BUD13: 64G>T; rs35585096

PubMed Link: 24780069

Variant Present in the following documents:

• Main text
• jcmm0018-1417.pdf

View BVdb publication page

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