Varaico: Literature-Extracted Genetic Variants

Gene:RGPD8
Variant:p.R952S
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RGPD8

NM_001164463.1:p.R952S

Associated Papers

Unravelling morphoea aetiopathogenesis by next-generation sequencing of paired skin biopsies.

Saracino AM et al.

Archives of Dermatological Research, 2023

A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.

Shahid H et al.

The Yale Journal of Biology and Medicine, 2023

37781000 (PubMed )
Supplement: yjbm_96_3_383_appendixA.xlsx › Appendix_A

Mutational heterogeneity in non-serous ovarian cancers.

Teer JK et al.

Scientific Reports, 2017

28852190 (PubMed )
Supplement: 41598_2017_10432_MOESM2_ESM.xlsx › Supp_Table_11
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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."