Publications:

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: 225: L41F

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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Embeddings from protein language models predict conservation and variant effects.

Human Genetics

Marquet, Céline C; Heinzinger, Michael M; Olenyi, Tobias T; Dallago, Christian C; Erckert, Kyra K; Bernhofer, Michael M; Nechaev, Dmitrii D; Rost, Burkhard B

Publication Date: 2022-10

Variant appearance in text: 225: L41F

PubMed Link: 34967936

Variant Present in the following documents:

• 439_2021_2411_MOESM3_ESM.xlsx, sheet 34

View BVdb publication page

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Cold and heterogeneous T cell repertoire is associated with copy number aberrations and loss of immune genes in small-cell lung cancer.

Nature Communications

Chen, Ming M; Chen, Runzhe R; Jin, Ying Y; Li, Jun J; Hu, Xin X; Zhang, Jiexin J; Fujimoto, Junya J; Hubert, Shawna M SM; Gay, Carl M CM; Zhu, Bo B; Tian, Yanhua Y; McGranahan, Nicholas N; Lee, Won-Chul WC; George, Julie J; Hu, Xiao X; Chen, Yamei Y; Wu, Meijuan M; Behrens, Carmen C; Chow, Chi-Wan CW; Pham, Hoa H N HHN; Fukuoka, Junya J; Wu, Jia J; Parra, Edwin Roger ER; Little, Latasha D LD; Gumbs, Curtis C; Song, Xingzhi X; Wu, Chang-Jiun CJ; Diao, Lixia L; Wang, Qi Q; Cardnell, Robert R; Zhang, Jianhua J; Wang, Jing J; Le, Xiuning X; Gibbons, Don L DL; Heymach, John V JV; Jack Lee, J J; William, William N WN; Cheng, Chao C; Glisson, Bonnie B; Wistuba, Ignacio I; Andrew Futreal, P P; Thomas, Roman K RK; Reuben, Alexandre A; Byers, Lauren A LA; Zhang, Jianjun J

Publication Date: 2021-11-17

Variant appearance in text: 225: L41F

PubMed Link: 34789716

Variant Present in the following documents:

• 41467_2021_26821_MOESM4_ESM.xlsx, sheet 1

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: 225: L41F

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

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The evolving proteome of SARS-CoV-2 predominantly uses mutation combination strategy for survival.

Computational And Structural Biotechnology Journal

Patro, L Ponoop Prasad LPP; Sathyaseelan, Chakkarai C; Uttamrao, Patil Pranita PP; Rathinavelan, Thenmalarchelvi T

Publication Date: 2021

Variant appearance in text: 225: L41F

PubMed Link: 34109017

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Mutational analysis and assessment of its impact on proteins of SARS-CoV-2 genomes from India.

Gene

Laskar, Rezwanuzzaman R; Ali, Safdar S

Publication Date: 2021-04-30

Variant appearance in text: 225: L41F

PubMed Link: 33549714

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Genomic analysis of a riboflavin-overproducing Ashbya gossypii mutant isolated by disparity mutagenesis.

Bmc Genomics

Kato, Tatsuya T; Azegami, Junya J; Yokomori, Ami A; Dohra, Hideo H; El Enshasy, Hesham A HA; Park, Enoch Y EY

Publication Date: 2020-04-23

Variant appearance in text: 225: Leu41Phe

PubMed Link: 32326906

Variant Present in the following documents:

• Main text
• 12864_2020_Article_6709.pdf

View BVdb publication page

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