Varaico: Literature-Extracted Genetic Variants

Gene:TSEN2
Variant:p.Q231*
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TSEN2

NM_025265.4:p.Q231*

Associated Papers

Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.

Bierhals T et al.

European Journal of Medical Genetics, 2013

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