Varaico: Literature-Extracted Genetic Variants

Gene:HLA-DRB1
Variant:p.P40S
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HLA-DRB1

NM_002124.4:p.P40S

Associated Papers

Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree.

Trizuljak J et al.

Platelets, 2024

39212265 (PubMed )
Supplement: supplement_1.pdf

Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Chen M et al.

Signal Transduction and Targeted Therapy, 2022

34980881 (PubMed )
Supplement: 41392_2021_710_MOESM2_ESM.xlsx › P8944-S3

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Sha Y et al.

Bmc Medical Genetics, 2019

31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1
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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."