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XB-GENEPAGE-943467
kars1 lysyl-tRNA synthetase 1
Monarch Ortholog Phenotypes
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Human (9 sources): Areflexia, Distal sensory impairment, Foot dorsiflexor weakness, Global developmental delay, Hearing impairment, Hyporeflexia, Pes cavus, Steppage gait, Vestibular schwannoma |
Mouse (9 sources): abnormal craniofacial morphology, abnormal cranium morphology, abnormal embryo size, decreased circulating alanine transaminase level, decreased circulating aspartate transaminase level, embryonic lethality, complete penetrance, embryonic lethality prior to organogenesis, increased lean body mass, preweaning lethality, complete penetrance |
View all ortholog results at Monarch |