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Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome.
Int J Mol Sci. 2022 Sep 13;23(18):10606. doi: 10.3390/ijms231810606.
Int J Mol Sci. 2022.
PMID: 36142510
Free PMC article.
Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing.
Sivtsev AA, Zhalsanova IZ, Postrigan AE, Fonova EA, Vasilyeva OY, Zarubin AA, Minaicheva LI, Agafonova AA, Petrova VV, Ravzhaeva EG, Salyukova OA, Skryabin NA.
Sivtsev AA, et al. Among authors: ravzhaeva eg.
Klin Lab Diagn. 2022 Apr 17;67(4):250-256. doi: 10.51620/0869-2084-2022-67-4-250-256.
Klin Lab Diagn. 2022.
PMID: 35575400
English.
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