Associated Papers
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.
Toyama M et al.
Plos One, 2022
35536790 (PubMed )
Supplement: pone.0268321.s003.xlsx › Sheet1
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Li Y et al.
Frontiers in Oncology, 2022
36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1
Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer.
Hu B et al.
Frontiers in Oncology, 2021
34434896 (PubMed )
Supplement: DataSheet_5.xlsx › All.final.xls.sed
Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.
Zhou X et al.
Frontiers in Medicine, 2021
34778325 (PubMed )
Supplement: Data_Sheet_2.PDF
Select a paper to view details