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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 4, 2023. (Total: 217641Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Abnormalities and SMARCE1[original query]
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
American journal of medical genetics. Part C, Seminars in medical genetics 2014 Sep 166C (3): 262-75.
Kosho Tomoki, Okamoto Nobuhiko,
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
PloS one 2021 16 (10): e0258766.
Aguilera Cinthia, Gabau Elisabeth, Ramirez-Mallafré Ariadna, Brun-Gasca Carme, Dominguez-Carral Jana, Delgadillo Veronica, Laurie Steve, Derdak Sophia, Padilla Natàlia, de la Cruz Xavier, Capdevila Núria, Spataro Nino, Baena Neus, Guitart Miriam, Ruiz An
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