Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.G95R
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ATAT1

NM_001413067.1:p.G95R

Associated Papers

Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy.

Brichta L et al.

Human Genetics, 2008

Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis.

Mitchell CL et al.

Molecular Genetics and Metabolism, 2002

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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."