162200.7

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Country

United Arab Emirates

HPO Terms

Cafe-au-lait spot; Axillary freckling; Lisch nodules; Neurofibromas; Scoliosis
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Sex

Male

Family History

No

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001042492.3:c.6546C>G1
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References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.