Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.A4V
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PTH

NM_000315.4:p.A4V

Associated Papers

Frequency of rare allelic variation in candidate genes among individuals with low and high urinary calcium excretion.

Toka HR et al.

Plos One, 2013

The p.E22G mutation in the Cu/Zn superoxide-dismutase gene predicts a long survival time: clinical and genetic characterization of a seven-generation ALS1 Spanish pedigree.

Syriani E et al.

Journal of the Neurological Sciences, 2009

Mimic syndromes in sporadic cases of progressive spinal muscular atrophy.

Visser J et al.

Neurology, 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."