Varaico: Literature-Extracted Genetic Variants

Gene:MAS1L
Variant:p.A72V
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MAS1L

NM_052967.2:p.A72V

Associated Papers

The Taiwan Precision Medicine Initiative provides a cohort for large-scale studies.

Yang HC et al.

Nature, 2025

41092961 (PubMed )
Supplement: 41586_2025_9680_MOESM4_ESM.zip › Supplemental_Data_19.xlsx › Supplemental_Data_19

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

Hettiaracchchi D et al.

Bmc Medical Genetics, 2018

30041615 (PubMed )
Supplement: 12881_2018_646_MOESM1_ESM.xlsx › 12_Hom_exonic
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