Zobrazeno 1 - 1
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pro vyhledávání: '"Tohru Oota"'
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-5 (2022)
Abstract We report on a 15-year-old Japanese female patient with hypotonia and global developmental delay from the neonatal period who was revealed to carry a known pathogenic PURA variant (NM_005859.5:c.697_699del, p.Phe233del) by whole-exome sequen
Externí odkaz:
https://doaj.org/article/7861164f1f41411286e57cacff4d64ef
