Varaico: Literature-Extracted Genetic Variants

Gene:MVD
Variant:p.P362L
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MVD

NM_002461.3:p.P362L

Associated Papers

Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.

Bisikirska B et al.

Science Translational Medicine, 2024

39413162 (PubMed )
Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s1.xlsx › Sheet1

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.

Hirsch Y et al.

International Journal of Molecular Sciences, 2023

37240244 (PubMed )
Supplement: ijms-24-08897-s001.zip › SuppTable1.xlsx › Homozygous
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