Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2I1
Variant:p.R651*
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DYNC2I1

NM_018051.5:p.R651*

Associated Papers

Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

Babazade A et al.

American Journal of Medical Genetics. Part A, 2025

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