Varaico: Literature-Extracted Genetic Variants

Gene:AAGAB
Variant:p.Y83*
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AAGAB

NM_024666.5:p.Y83*

Associated Papers

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: Two Japanese familial case reports and review of reported mutations.

Hasegawa A et al.

The Journal of Dermatology, 2021

A novel AAGAB mutation in a Peruvian family with punctate palmoplantar keratoderma.

Gómez-García AC et al.

Acta Dermatovenerologica Alpina, Pannonica, Et Adriatica, 2021

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