Varaico: Literature-Extracted Genetic Variants

Gene:SEC24D
Variant:p.L526F
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SEC24D

NM_014822.4:p.L526F

Associated Papers

Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women.

Patiño-Salazar JD et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2025

ALPL mutations in adults with rheumatologic disorders and low serum alkaline phosphatase activity.

Rauch F et al.

Journal of Bone and Mineral Metabolism, 2019

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA1_Deleterious_Hits

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Ostrowski J et al.

Scientific Reports, 2016

28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7
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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."