Varaico: Literature-Extracted Genetic Variants

Gene:TRMT61A
Variant:p.A222V
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TRMT61A

NM_152307.3:p.A222V

Associated Papers

Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda.

Uwibambe E et al.

Bmc Medical Genomics, 2025

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