Varaico: Literature-Extracted Genetic Variants

Gene:KIAA1549L
Variant:p.S711*
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KIAA1549L

NM_012194.3:p.S711*

Associated Papers

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Denisova E et al.

Cancer Gene Therapy, 2022

34045664 (PubMed )
Supplement: 41417_2021_347_MOESM2_ESM.xls › indel_C000-2SXE39_somatic_funct

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

Tiosano D et al.

Plos Genetics, 2019

31034465 (PubMed )
Supplement: pgen.1008088.s007.xlsx › Sheet1
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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."