Varaico: Literature-Extracted Genetic Variants

Gene:SIX2
Variant:p.P236L
Back to variants list

SIX2

NM_016932.5:p.P236L

Associated Papers

Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract.

Ahn YH et al.

Journal of Clinical Medicine, 2020

32164334 (PubMed )
Supplement: jcm-09-00751-s001.pdf

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › c__Freq_TP092

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

Bekheirnia MR et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27657687 (PubMed )
Supplement: NIHMS807719-supplement-Table_S2_S3.xlsx › Table_S2
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."