Publications:

Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease.

Genes

Naveed, Muhammad Asif MA; Abid, Aiysha A; Ali, Nadir N; Hassan, Yaqoob Y; Amar, Ali A; Javed, Aymen A; Qamar, Khansa K; Mustafa, Ghulam G; Raza, Ali A; Saleem, Umera U; Hussain, Shabbir S; Shakoor, Madiha M; Khaliq, Shagufta S; Mohsin, Shahida S

Publication Date: 2022-05-28

Variant appearance in text: VWF: C1084Y

PubMed Link: 35741733

Variant Present in the following documents:

• Main text
• genes-13-00971.pdf

View BVdb publication page

Novel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defects.

Blood Advances

Rawley, Orla O; Swystun, Laura L LL; Brown, Christine C; Nesbitt, Kate K; Rand, Margaret M; Hossain, Taneya T; Klaassen, Robert R; James, Paula D PD; Carcao, Manuel D MD; Lillicrap, David D

Publication Date: 2022-05-10

Variant appearance in text: VWF: 3251G>A; Cys1084Tyr

PubMed Link: 35020809

Variant Present in the following documents:

• Main text
• advancesADV2021005928.pdf

View BVdb publication page