Varaico: Literature-Extracted Genetic Variants

Gene:THBD
Variant:p.T44I
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THBD

NM_000361.3:p.T44I

Associated Papers

Evaluation of the genetic basis of familial-associated early-onset hematologic cancers in an ancestral/ethnically diverse population.

Feng Q et al.

Haematologica, 2024

38205536 (PubMed )
Supplement: 2023_284224_FENG_SUPPL_TABLES.xlsx › suppT4

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.5

Epidemiology, Management, and Outcome of Atypical Hemolytic Uremic Syndrome in an Omani Cohort.

Al Riyami D et al.

Oman Medical Journal, 2023

The role of complement in Streptococcus pneumoniae-associated haemolytic uraemic syndrome.

Szilágyi A et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013

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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."