Publications:

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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: HEMA: G439S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: F8: G439S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.

Plos One

Nair, Preethi S PS; Shetty, Shrimati D SD; Chandrakala, S S; Ghosh, Kanjaksha K

Publication Date: 2014

Variant appearance in text: FVIII: 1315G>A

PubMed Link: 24845853

Variant Present in the following documents:

• Main text
• pone.0097337.pdf

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A homozygous female hemophilia A.

Indian Journal Of Human Genetics

Nair, Preethi S PS; Shetty, S S; Ghosh, Kanjaksha K

Publication Date: 2012-01

Variant appearance in text: F8: 1315G>A

PubMed Link: 22754241

Variant Present in the following documents:

• Main text
• IJHG-18-134.pdf

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: F8: G439S

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

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Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.

Bmc Medical Genetics

Lin, Shin-Yu SY; Su, Yi-Ning YN; Hung, Chia-Cheng CC; Tsay, Woei W; Chiou, Shyh-Shin SS; Chang, Chieh-Ting CT; Ho, Hong-Nerng HN; Lee, Chien-Nan CN

Publication Date: 2008-06-20

Variant appearance in text: FVIII: 1315G>A

PubMed Link: 18565236

Variant Present in the following documents:

• Main text
• 1471-2350-9-53.pdf

View BVdb publication page

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