Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q304_E305Splc
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PAH

NM_000277.3:p.Q304_E305Splc

Associated Papers

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.

Witsch-Baumgartner M et al.

European Journal of Human Genetics : Ejhg, 2001

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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."