Varaico: Literature-Extracted Genetic Variants

Gene:HCRTR1
Variant:p.L265M
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HCRTR1

NM_001525.3:p.L265M

Associated Papers

Unraveling the function and structure impact of deleterious missense SNPs in the human OX1R receptor by computational analysis.

Farajzadeh-Dehkordi M et al.

Scientific Reports, 2024

38191899 (PubMed )
Supplement: 41598_2023_49809_MOESM5_ESM.xlsx › Table_S2

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Feliubadaló L et al.

Scientific Reports, 2017

28050010 (PubMed )
Supplement: srep37984-s2.xls › Exome_geMODERATE_variants

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Maciąg A et al.

Bmc Genetics, 2015

25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.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."