Associated Papers
Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects.
Li Q et al.
Genome Biology, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.
Wu Y et al.
Frontiers in Genetics, 2021
34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1
Screening for TUBA4A mutations in a large Chinese cohort of patients with ALS: re-evaluating the pathogenesis of TUBA4A in ALS.
Li J et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
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