Varaico: Literature-Extracted Genetic Variants

Gene:CAPN1
Variant:p.R295Q
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CAPN1

NM_005186.4:p.R295Q

Associated Papers

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.

Peng Y et al.

Bmc Medical Genomics, 2023

38062428 (PubMed )
Supplement: 12920_2023_1753_MOESM2_ESM.xlsx › Sheet1

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_5.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."