Varaico: Literature-Extracted Genetic Variants

Gene:CALM2
Variant:p.D130Y
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CALM2

NM_001743.6:p.D130Y

Associated Papers

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Bernkopf M et al.

Nature Communications, 2023

36792598 (PubMed )
Supplement: 41467_2023_36606_MOESM4_ESM.xlsx › Supplementary_Data_1
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