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一种与AARS2相关的白血病变异的较温和表型相关的新型致病变体 - 一份病例报告

Joana Fernandes1, João Moura1, João Tarrio2,3

  • 1Neurology Department, Unidade Local de Saúde de Santo António, Porto, Portugal.

Molecular genetics and metabolism reports
|November 14, 2024
PubMed
概括

由于AARS2基因变异引起的成人发病性白血病可能呈现出较轻微的症状和较慢的进展. 一种新型变种c.730G>A (p.Val244Ile) 与较不严重的临床和放射性表现有关.

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