Varaico: Literature-Extracted Genetic Variants

Gene:PAK6
Variant:p.R675*
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PAK6

NM_001395430.1:p.R675*

Associated Papers

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_variants

Integrated genomics approach to identify biologically relevant alterations in fewer samples.

Chandrani P et al.

Bmc Genomics, 2015

26572163 (PubMed )
Supplement: 12864_2015_2138_MOESM2_ESM.zip › Pratik_et_al_SI_Tables_20150910.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."