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pro vyhledávání: '"Meritxell C. Llach"'
Autor:
Ping Lao, Ludwine Messiaen, Rafal Bartoszewski, Jarosław Króliczewski, Alina Mieczkowska, Eduard Serra, Michael R. Crowley, David K. Crossman, Alicia Gomes, Magdalena Koczkowska, Elisabeth Castellanos, Yunjia Chen, Meritxell C. Llach, Arkadiusz Piotrowski, Andrzej Poplawski
Publikováno v:
Human mutationREFERENCES. 43(1)
Constitutional LZTR1 or SMARCB1 pathogenic variants (PVs) have been found in ∼86% of familial and ∼40% of sporadic schwannomatosis cases. Hence, we performed massively parallel sequencing of the entire LZTR1, SMARCB1, and NF2 genomic loci in 35 i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e7a0d578845d56c18aca3205d3d6c1d
https://pubmed.ncbi.nlm.nih.gov/34747535
https://pubmed.ncbi.nlm.nih.gov/34747535
