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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACAA1

Variant:p.T253_E255del3

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ACAA1

NM_001607.4:p.T253_E255del3

hg38:chr3:38126561 CCTCCATGGT>C

Associated Papers

Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency.

Abdelkreem E et al.

Jimd Reports, 2017

27928777 (PubMed )

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