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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Syndrome and COL6A1[original query]
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.
American journal of human genetics 2012 Oct 91 (4): 646-59.
Ackerman Christine, Locke Adam E, Feingold Eleanor, Reshey Benjamin, Espana Karina, Thusberg Janita, Mooney Sean, Bean Lora J H, Dooley Kenneth J, Cua Clifford L, Reeves Roger H, Sherman Stephanie L, Maslen Cheryl
Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669.
Frontiers in genetics 2013 4 57.
Dey Arpita, Bhowmik Krishnendu, Chatterjee Arpita, Chakrabarty Pit Baran, Sinha Swagata, Mukhopadhyay Kanch
Shared genetic susceptibilities for irritable bowel syndrome and depressive disorder in Chinese patients uncovered by pooled whole-exome sequencing.
Journal of advanced research 2020 May 23 113-121.
Zhu Shiwei, He Meibo, Liu Zuojing, Qin Zelian, Wang Zhiren, Duan Lipi
[Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome].
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2021 3 43 (1): 25-31.
Li Zi Quan, Geng Mo Zhao, Zhao Sen, Wu Zhi Hong, Zhang Jian Guo, Wu Nan, Wang Yi Pe
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