Associated Papers
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.
Miao M et al.
Bmc Medical Genomics, 2022
35831859 (PubMed )
Supplement: 12920_2022_1311_MOESM1_ESM.xls › filtered_data
Mutation Analysis of Second Primary Tumors in Oral Cancer in Taiwanese Patients through Next-Generation Sequencing.
Liu TY et al.
Diagnostics (basel, Switzerland), 2022
35453999 (PubMed )
Supplement: diagnostics-12-00951-s001.zip › Table_S3_0707R.xlsx › Table_S3
Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation.
Zhang W et al.
Frontiers in Pediatrics, 2022
36507129 (PubMed )
Supplement: Table1.xlsx › Supplemental_Table
Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.
Shahid M et al.
Peerj, 2022
36518267 (PubMed )
Supplement: peerj-10-14132-s001.xlsx › PANTHER
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma.
Gong B et al.
The British Journal of Ophthalmology, 2015
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