Varaico: Literature-Extracted Genetic Variants

Gene:THBD
Variant:p.P40L
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THBD

NM_000361.3:p.P40L

Associated Papers

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

Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations.

Thergaonkar RW et al.

Clinical and Experimental Nephrology, 2018

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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."