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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: May 29, 2023. (Total: 217385Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Abnormalities and PAX6[original query]
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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