Varaico: Literature-Extracted Genetic Variants

Gene:PPAN
Variant:p.G2V
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PPAN

NM_020230.7:p.G2V

Associated Papers

Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh.

Fichou Y et al.

Transfusion, 2015

Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.

Núñez L et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2013

Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.

Vreeswijk MP et al.

Human Mutation, 2009

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