Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A2
Variant:p.S695fs
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ATP6V0A2

NM_012463.4:p.S695fs

Associated Papers

Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.

Morlino S et al.

American Journal of Medical Genetics. Part A, 2021

A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing

Karacan İ et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."