Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.W313Splc
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GAPDH

NM_002046.7:p.W313Splc

Associated Papers

Generation of two lymphoblastoid-derived induced pluripotent stem cell (iPSC) lines from patients with phenylketonuria.

Veleva D et al.

Stem Cell Research, 2024

Is current serologic RhD typing of blood donors sufficient for avoiding immunization of recipients?

Krog GR et al.

Transfusion, 2011

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.

Baker M et al.

Nature, 2006

Mutations in SEC63 cause autosomal dominant polycystic liver disease.

Davila S et al.

Nature Genetics, 2004

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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."