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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LMBR1

Variant:p.C24delFs

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LMBR1

NM_022458.4:p.C24delFs

hg38:chr7:156836881 CA>C

Associated Papers

Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of MUC5B.

Costain G et al.

American Journal of Respiratory and Critical Care Medicine, 2022

35023825 (PubMed )

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