Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Abnormalities and PAX6[original query] |
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A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient. Neuroscience letters 2009 Oct 462 (3): 267-71. Maekawa Motoko, Iwayama Yoshimi, Nakamura Kazuhiko, Sato Miho, Toyota Tomoko, Ohnishi Tetsuo, Yamada Kazuo, Miyachi Taishi, Tsujii Masatsugu, Hattori Eiji, Maekawa Nobuo, Osumi Noriko, Mori Norio, Yoshikawa Tak |
Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement. Investigative ophthalmology & visual science 2021 8 62 (10): 23. Jiang Yi, Li Shiqiang, Xiao Xueshan, Sun Wenmin, Zhang Qingjio |
The Correlation of ELP4-PAX6 With Rolandic Spike Sources in Idiopathic Rolandic Epilepsy Syndromes. Frontiers in neurology 2021 4 12 643964. Duan Yiran, Leng Xuerong, Liu Chunyan, Qi Xiaohong, Zhang Liping, Tan Wenjun, Zhang Xiating, Wang Yupi |
Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene. European journal of human genetics : EJHG 2022 10 31 (1): 89-96. Boehm Bernhard O, Kratzer Wolfgang, Bansal Vik |
Novel variants in the PAX6 gene related to isolated aniridia. Congenital anomalies 2023 5 . Katarzyna Kuchalska, Anna Wawrocka, Maciej R Krawczyns |
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- Page last updated:May 22, 2023
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