Publications:

Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs.

Genetics And Molecular Biology

Silva, Gerda Cristal Villalba GCV; Borsatto, Taciane T; Schwartz, Ida Vanessa Doederlein IVD; Sperb-Ludwig, Fernanda F

Publication Date: 2022

Variant appearance in text: PC: 755A>G; Asp252Gly

PubMed Link: 35167647

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-45-1-e20200432.pdf

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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: PC: D252G

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

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Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact.

Plos One

Badgujar, Nutan V NV; Tarapara, Bhoomi V BV; Shah, Franky D FD

Publication Date: 2019

Variant appearance in text: PC: Asp252Gly

PubMed Link: 31398194

Variant Present in the following documents:

• pone.0220711.pdf

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Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Orphanet Journal Of Rare Diseases

Alfadhel, Majid M; Benmeakel, Mohammed M; Hossain, Mohammad Arif MA; Al Mutairi, Fuad F; Al Othaim, Ali A; Alfares, Ahmed A AA; Al Balwi, Mohammed M; Alzaben, Abdullah A; Eyaid, Wafaa W

Publication Date: 2016-09-15

Variant appearance in text: PC: Asp252Gly

PubMed Link: 27629047

Variant Present in the following documents:

• Main text
• 13023_2016_Article_510.pdf

View BVdb publication page