Varaico: Literature-Extracted Genetic Variants

Gene:THPO
Variant:p.H251Q
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THPO

NM_000460.4:p.H251Q

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 › ST3.3

Pathogenic TERT promoter variants in telomere diseases.

Gutierrez-Rodrigues F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30523342 (PubMed )
Supplement: 41436_2018_385_MOESM1_ESM.pdf
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