Publications:

PRIORI-T: A tool for rare disease gene prioritization using MEDLINE.

Plos One

Rao, Aditya A; Joseph, Thomas T; Saipradeep, Vangala G VG; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R

Publication Date: 2020

Variant appearance in text: HP: Gly123Arg

PubMed Link: 32315351

Variant Present in the following documents:

• pone.0231728.s001.pdf

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Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.

Bmc Medical Genomics

Rao, Aditya A; Vg, Saipradeep S; Joseph, Thomas T; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R

Publication Date: 2018-07-06

Variant appearance in text: HP: Gly123Arg

PubMed Link: 29980210

Variant Present in the following documents:

• 12920_2018_372_MOESM1_ESM.pdf

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Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.

Human Mutation

Teich, Niels N; Rosendahl, Jonas J; Tóth, Miklós M; Mössner, Joachim J; Sahin-Tóth, Miklós M

Publication Date: 2006-08

Variant appearance in text: HP: 367G>A

PubMed Link: 16791840

Variant Present in the following documents:

• Main text

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