Varaico: Literature-Extracted Genetic Variants

Gene:P2RX5
Variant:p.S79L
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P2RX5

NM_002561.4:p.S79L

Associated Papers

Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand.

Musgrave SM et al.

Journal of the Royal Society of New Zealand, 2025

40756852 (PubMed )
Supplement: TNZR_A_2394128_SM9470.xlsx › Sheet1

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › b__Freq_TP096

Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.

Hebert E et al.

Genes, 2017

29057844 (PubMed )
Supplement: genes-08-00276-s001.pdf
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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."