Publications:

Missense Variants of von Willebrand Factor in the Background of COVID-19 Associated Coagulopathy.

Genes

Elek, Zsuzsanna Z; Losoncz, Eszter E; Maricza, Katalin K; Fülep, Zoltán Z; Bánlaki, Zsófia Z; Kovács-Nagy, Réka R; Keszler, Gergely G; Rónai, Zsolt Z

Publication Date: 2023-02-28

Variant appearance in text: rs1800383

PubMed Link: 36980889

Variant Present in the following documents:

• Main text
• genes-14-00617.pdf

View BVdb publication page

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs1800383

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: VWF: D1472N

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs1800383

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: rs1800383

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM3_ESM.xls, sheet 1

View BVdb publication page