Varaico: Literature-Extracted Genetic Variants

Gene:QARS1
Variant:p.V126E
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QARS1

NM_005051.3:p.V126E

Associated Papers

Third trimester diagnosis of a compound heterozygous QARS1 mutation based upon microcephaly and abnormal placenta.

Hackelöer M et al.

Case Reports in Perinatal Medicine, 2025

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