226650.G.1

Country

Palestine

HPO Terms

Abnormal blistering of the skin; Abnormal dermoepidermal junction morphology; Dermal atrophy
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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000494.4:c.3766+1G>A12

Remarks

Six patients from a large consanguineous family
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