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
Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic Leukemia.
Brandes D et al.
Hemasphere, 2023
37469802 (PubMed )
Supplement: hs9-7-e925-s001.xlsx › Table_S5_
Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction.
Sumalde AAM et al.
Genes, 2023
Genomic and Transcriptomic Characterization of Relapsed SCLC Through Rapid Research Autopsy.
Chen HZ et al.
Jto Clinical and Research Reports, 2021
34590014 (PubMed )
Supplement: mmc14.xlsx › SNVS_and_indels
Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.
Tan ZP et al.
Scientific Reports, 2014
25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new
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