Associated Papers
Loss-of-function variant in TDRD6 cause male infertility with severe oligo-astheno-teratozoospermia in human and mice.
Bi X et al.
Journal of Cellular and Molecular Medicine, 2024
39331689 (PubMed )
Supplement: JCMM-28-e18580-s001.docx
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
Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.
Milanowski LM et al.
International Journal of Molecular Sciences, 2022
35806091 (PubMed )
Supplement: ijms-23-07086-s001.zip › Supplementary_Table_S1.xlsx › Heterozygotes
Evaluation of FGFR targeting in breast cancer through interrogation of patient-derived models.
Chew NJ et al.
Breast Cancer Research : Bcr, 2021
34344433 (PubMed )
Supplement: 13058_2021_1461_MOESM7_ESM.xlsx › KCC_P_4043_Tumour
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