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Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Genet Med. 2024 Apr;26(4):101068. doi: 10.1016/j.gim.2024.101068. Epub 2024 Jan 6.
Genet Med. 2024.
PMID: 38193396
Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder.
Abu-Libdeh B, Mor-Shaked H, Atawna AA, Gillis D, Halstuk O, Shaul-Lotan N, Slae M, Sultan M, Meiner V, Elpeleg O, Harel T.
Abu-Libdeh B, et al. Among authors: halstuk o.
Eur J Hum Genet. 2021 Jun;29(6):977-987. doi: 10.1038/s41431-021-00844-7. Epub 2021 Mar 15.
Eur J Hum Genet. 2021.
PMID: 33723354
Free PMC article.
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