Varaico: Literature-Extracted Genetic Variants

Gene:F13B
Variant:p.R438H
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F13B

NM_001994.3:p.R438H

Associated Papers

Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.

Qiao L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32719394 (PubMed )
Supplement: NIHMS1619686-supplement-Supplementary_tables.xlsx › Table_S3

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM2_ESM.xlsx › S2

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.

Qi H et al.

Plos Genetics, 2018

30532227 (PubMed )
Supplement: pgen.1007822.s011.xlsx › CodingDNM

Pharmacogenetic Variation in Over 100 Genes in Patients Receiving Acenocumarol.

Gonzalez-Covarrubias V et al.

Frontiers in Pharmacology, 2017

29218011 (PubMed )
Supplement: Table1.XLSX › ST1_targetgenes

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Xie M et al.

Nature Medicine, 2014

25326804 (PubMed )
Supplement: NIHMS630249-supplement-7.xlsx › supplementaryTable3b.txt
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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."