Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.K225R
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PRSS1

NM_002769.5:p.K225R

Associated Papers

Multi-omics comparison of malignant and normal uveal melanocytes reveals molecular features of uveal melanoma.

Gentien D et al.

Cell Reports, 2023

37708024 (PubMed )
Supplement: NIHMS1933915-supplement-3.xlsx › Supp_table_2

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t

UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.

Saini N et al.

Plos Genetics, 2021

33444353 (PubMed )
Supplement: pgen.1009302.s014.xlsx › S5_Table

Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.

Yang D et al.

Frontiers in Genetics, 2021

34603379 (PubMed )
Supplement: Data_Sheet_2.XLSX › DX1616_21D03390595-1

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL3

A glioneuronal tumor with CLIP2-MET fusion.

Chowdhury T et al.

Npj Genomic Medicine, 2020

32550005 (PubMed )
Supplement: 41525_2020_131_MOESM2_ESM.xlsx › Mutation__exonic_splicing_

Genetic Aberration Analysis in Thai Colorectal Adenoma and Early-Stage Adenocarcinoma Patients by Whole-Exome Sequencing.

Intarajak T et al.

Cancers, 2019

31336886 (PubMed )
Supplement: cancers-11-00977-s001.zip › supplementary_file › supplementary_table_2.xlsx › somatic_normal_tumor

SMAD4 and NF1 mutations as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese metastatic colorectal cancer patients.

Mei Z et al.

Bmc Cancer, 2018

29703253 (PubMed )
Supplement: 12885_2018_4298_MOESM2_ESM.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."