Publications:

Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.

Journal Of Clinical Medicine

Preisler, Barbara B; Pezeshkpoor, Behnaz B; Banchev, Atanas A; Fischer, Ronald R; Zieger, Barbara B; Scholz, Ute U; Rühl, Heiko H; Kemkes-Matthes, Bettina B; Schmitt, Ursula U; Redlich, Antje A; Unal, Sule S; Laws, Hans-Jürgen HJ; Olivieri, Martin M; Oldenburg, Johannes J; Pavlova, Anna A

Publication Date: 2021-01-18

Variant appearance in text: F8: Leu431Phe

PubMed Link: 33477601

Variant Present in the following documents:

• jcm-10-00347.pdf

View BVdb publication page

Genetic causes of haemophilia in women and girls.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Miller, Connie H CH; Bean, Christopher J CJ

Publication Date: 2021-03

Variant appearance in text: F8: Leu431Phe

PubMed Link: 33314404

Variant Present in the following documents:

• Main text

View BVdb publication page

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: F8: L431F; rs28933672

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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: L431F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

Three novel F8 mutations in sporadic haemophilia A cases.

Springerplus

Hussain, Rashid R; Abid, Noman Bin NB; Hussain, Sajjad S; Shaukat, Zeeshan Z; Altaf, Mudassir M; Altaf, Sara S; Niazi, Gulzar G

Publication Date: 2012

Variant appearance in text: rs28933672

PubMed Link: 23961341

Variant Present in the following documents:

• Main text

View BVdb publication page