Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.E146K
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RHD

NM_016124.6:p.E146K

Associated Papers

The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.

Thaweesapphithak S et al.

Journal of Translational Medicine, 2024

39627759 (PubMed )
Supplement: 12967_2024_5904_MOESM1_ESM.xlsx › Supplement_table_1.

A comprehensive investigation of RHD polymorphisms in the Chinese Han population in Xi'an.

Ye SH et al.

Blood Transfusion = Trasfusione Del Sangue, 2014

Cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group.

Baumert U et al.

American Journal of Medical Genetics. Part A, 2005

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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."