Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.S524P
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ALMS1

NM_001378454.1:p.S524P

Associated Papers

A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.

Fan Q et al.

Bmc Medical Genetics, 2019

30894134 (PubMed )
Supplement: 12881_2019_782_MOESM1_ESM.xlsx › Sheet2

Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer.

Barber LJ et al.

Plos One, 2011

21750719 (PubMed )
Supplement: pone.0021639.s006.xls › 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."