Varaico: Literature-Extracted Genetic Variants

Gene:SCAF1
Variant:p.S191_S192del1
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SCAF1

NM_021228.3:p.S191_S192del1

Associated Papers

HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.

Xu J et al.

European Journal of Neurology, 2024

39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2

Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Xing Y et al.

Plos Neglected Tropical Diseases, 2020

33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families

Mutation Analysis of Colorectal and Gastric Carcinomas Originating from Adenomas: Insights into Genomic Evolution Associated with Malignant Progression.

Lee SH et al.

Cancers, 2020

32023847 (PubMed )
Supplement: cancers-12-00325-s001.zip › cancers-689749-supplement_final › Table_S2.xlsx › TableS3

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_1_early_met_2
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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."