Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.P1276S
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RP1

NM_006269.2:p.P1276S

Associated Papers

IFNAR2 p.F8S Variant Associates with Severe COVID-19 and Adaptive Immune Cell Activation Modulation.

Malvestiti F et al.

International Journal of Molecular Sciences, 2026

41596638 (PubMed )
Supplement: ijms-27-00992-s001.zip › Malvestiti_et_al.__Supplementary_Table__y.xlsx › Table_S1

Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma.

Nordfors K et al.

Cold Spring Harbor Molecular Case Studies, 2018

29602769 (PubMed )
Supplement: supp_mcs.a002246_Supplemental_Table_1.xlsx › Only_in_child
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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."