Varaico: Literature-Extracted Genetic Variants

Gene:PBXIP1
Variant:p.R554W
Back to variants list

PBXIP1

NM_001317734.2:p.R554W

Associated Papers

Systematic phenotype and genotype characterization of Moebius syndrome.

Webb BD et al.

Genetics in Medicine Open, 2025

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.

Tang CSM et al.

Jci Insight, 2022

34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable7._Rec_CADD20

Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study.

Jiang P et al.

Frontiers in Genetics, 2019

31440271 (PubMed )
Supplement: Table_1.xlsx › SS-based_coding_variants
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."