Varaico: Literature-Extracted Genetic Variants

Gene:NR2F1
Variant:p.Q57*
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NR2F1

NM_005654.6:p.Q57*

Associated Papers

Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.

Hrvatin N et al.

Clinical Genetics, 2024

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