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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TTC7A

Variant:p.A832fs

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TTC7A

NM_020458.4:p.A832fs

hg38:chr2:47073840 G>GN

Associated Papers

Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation.

Diociaiuti A et al.

Genes, 2022

35627206 (PubMed )

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