217080.G.2

Country

Palestine

HPO Terms

Cone/cone-rod dystrophy; Amelogenesis Imperfecta
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Sex

Unknown

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_020184.3:c.1813C>T6NA

Remarks

3 patients from family 'Gaza B' in the publication
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