Associated Papers
Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism.
Xu B et al.
Alternative Therapies in Health and Medicine, 2023
Multiomics Characterization of Low-Grade Serous Ovarian Carcinoma Identifies Potential Biomarkers of MEK Inhibitor Sensitivity and Therapeutic Vulnerability.
Shrestha R et al.
Cancer Research, 2021
33441310 (PubMed )
Supplement: can-20-2222_supplemental_st1-st14_suppst1-st14.xlsx › S3
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
Zlotina A et al.
Bmc Medical Genomics, 2020
33218365 (PubMed )
Supplement: 12920_2020_821_MOESM1_ESM.xlsx › Sheet_1
Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.
Lin Y et al.
Molecular Genetics & Genomic Medicine, 2019
Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.
Sami N et al.
Molecular Neurobiology, 2017
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.
Buczkowicz P et al.
Nature Genetics, 2014
24705254 (PubMed )
Supplement: NIHMS4215-supplement-10.xlsx › Supplementary_Table_3
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