Varaico: Literature-Extracted Genetic Variants

Gene:AMER1
Variant:p.S182_A194del13
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AMER1

NM_152424.4:p.S182_A194del13

Associated Papers

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Kalm T et al.

American Journal of Human Genetics, 2024

38772379 (PubMed )
Supplement: mmc1.pdf

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.

Palles C et al.

American Journal of Human Genetics, 2022

35460607 (PubMed )
Supplement: mmc2.xlsx › Table_S4
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