Varaico: Literature-Extracted Genetic Variants

Gene:HERC2
Variant:p.Q2549*
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HERC2

NM_004667.6:p.Q2549*

Associated Papers

A Novel HERC2 Variant in Two Siblings with Autosomal Recessive Intellectual Developmental Disorder-38 and Cardiomyopathy.

Şenol HB et al.

Molecular Syndromology, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."