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Fletta eftir efnisorði "Face/abnormalities"

Fletta eftir efnisorði "Face/abnormalities"

Röðun: Raða: Niðurstöður:

  • Potter, Sarah J.; Zhang, Li; Kotliar, Michael; Wu, Yuehong; Schafer, Caitlin; Stefan, Kurtis; Boukas, Leandros; Qu’d, Dima; Bodamer, Olaf; Simpson, Brittany N.; Barski, Artem; Lindsley, Andrew W.; Björnsson, Hans Tómas (2024-05-03)
    Individuals with Kabuki syndrome present with immunodeficiency; however, how pathogenic variants in the gene encoding the histone-modifying enzyme lysine methyltransferase 2D (KMT2D) lead to immune alterations remain poorly understood. Following up on ...