Varaico: Literature-Extracted Genetic Variants

Gene:HAL
Variant:p.P429_M430Splc
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HAL

NM_002108.4:p.P429_M430Splc

Associated Papers

Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.

Li N et al.

Npj Breast Cancer, 2021

34117267 (PubMed )
Supplement: 41523_2021_279_MOESM2_ESM.xlsx › Supp._Table_4a_Recurrent_LoF

Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease.

Yu B et al.

Circulation. Cardiovascular Genetics, 2015

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 143.91
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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."