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
Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
Chen M et al.
Signal Transduction and Targeted Therapy, 2022
34980881 (PubMed )
Supplement: 41392_2021_710_MOESM2_ESM.xlsx › P7824-S5
Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.
Sha Y et al.
Bmc Medical Genetics, 2019
31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Arno G et al.
American Journal of Human Genetics, 2016
27889058 (PubMed )
Supplement: mmc1.pdf
Germline mutations in MAP3K6 are associated with familial gastric cancer.
Gaston D et al.
Plos Genetics, 2014
25340522 (PubMed )
Supplement: pgen.1004669.s004.xlsx › Sheet1
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