Publications:

Three-Decade Successive Establishment of Care for Women/Girls from Families with Haemophilia.

The Application Of Clinical Genetics

Chuansumrit, Ampaiwan A; Sasanakul, Werasak W; Sirachainan, Nongnuch N; Santiwatana, Suttikarn S; Kadegasem, Praguywan P; Wongwerawattanakoon, Pakawan P; Tungbubpha, Noppawan N; Chantaraamporn, Juthamard J

Publication Date: 2022

Variant appearance in text: FVIII: Asn1460Lys

PubMed Link: 36213555

Variant Present in the following documents:

• Main text
• tacg-15-133.pdf

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: N1460K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: implications for genotyping.

Journal Of Thrombosis And Haemostasis : Jth

Ogata, K K; Selvaraj, S R SR; Miao, H Z HZ; Pipe, S W SW

Publication Date: 2011-06

Variant appearance in text: FVIII: 4380T>A

PubMed Link: 21645226

Variant Present in the following documents:

• Main text

View BVdb publication page