Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1
Variant:p.R152Q
Back to variants list

TGFB1

NM_000660.7:p.R152Q

Associated Papers

Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches.

Quintero-Ronderos P et al.

Reproductive Sciences (thousand Oaks, Calif.), 2020

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Tong W et al.

Scientific Reports, 2018

29581464 (PubMed )
Supplement: 41598_2018_23503_MOESM1_ESM.xls › P23

[Polymorphism frequency of fibrinogen Bβ-chain 448Arg and Lys, and the differences of plasma fibrinogen level and clotting function with three genotypes in Japanese].

Terasawa F et al.

Rinsho Byori. the Japanese Journal of Clinical Pathology, 2014

Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.

Sharma V et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2014

CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Mao Y et al.

Plos One, 2013

24205039 (PubMed )
Supplement: pone.0077945.s001.xls › Table_S4

[Role of fibrinogen Bbeta-chain D-region 454-458 residues for assembly and secretion of intact fibrinogen].

Terasawa F et al.

Rinsho Byori. the Japanese Journal of Clinical Pathology, 2011

The Aalpha-chain 6Ile/Val polymorphism is not associated with plasma fibrinogen levels in Japanese.

Terasawa F et al.

Thrombosis Research, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."