Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A2
Variant:p.L658_S659delFs
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ATP6V0A2

NM_012463.4:p.L658_S659delFs

Associated Papers

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.

Zaman Q et al.

The Journal of Gene Medicine, 2023

The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity.

Goyal M et al.

Indian Journal of Dermatology, 0

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