Varaico: Literature-Extracted Genetic Variants

Gene:PRF1
Variant:p.H307delFs
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PRF1

NM_001083116.3:p.H307delFs

Associated Papers

Genetic Variants in Recurrent Euploid Pregnancy Loss.

Aminbeidokhti M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41256177 (PubMed )
Supplement: media-2.xlsx › Table_S6

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.

Gadoury-Levesque V et al.

Blood Advances, 2020

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Cheema H et al.

Npj Genomic Medicine, 2020

33083013 (PubMed )
Supplement: 41525_2020_150_MOESM1_ESM.pdf
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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."