Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.D308_C309delFs
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TCN2

NM_000355.4:p.D308_C309delFs

Associated Papers

Vacuolization of large myeloid lineage and absence of erythroblast and megakaryocyte: Clues to the diagnosis of hereditary transcobalamin II deficiency.

Luo X et al.

Pediatric Blood & Cancer, 2023

[Clinical and genetic analysis of a child with transcobalamin II deficiency].

Yang C et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations.

Häberle J et al.

Journal of Human Genetics, 2009

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