Varaico: Literature-Extracted Genetic Variants

Gene:HSPG2
Variant:p.R675W
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HSPG2

NM_005529.7:p.R675W

Associated Papers

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs

Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.

González-Atienza C et al.

Genes, 2023

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL8
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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."