Publications:

Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.

Scientific Reports

Fransson, Susanne S; Martinez-Monleon, Angela A; Johansson, Mathias M; Sjöberg, Rose-Marie RM; Björklund, Caroline C; Ljungman, Gustaf G; Ek, Torben T; Kogner, Per P; Martinsson, Tommy T

Publication Date: 2020-12-31

Variant appearance in text: HR: L228F

PubMed Link: 33384420

Variant Present in the following documents:

• Main text
• 41598_2020_Article_78370.pdf

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Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Plos One

Bakhchane, Amina A; Charif, Majida M; Bousfiha, Amale A; Boulouiz, Redouane R; Nahili, Halima H; Rouba, Hassan H; Charoute, Hicham H; Lenaers, Guy G; Barakat, Abdelhamid A

Publication Date: 2017

Variant appearance in text: HR: 684G>C

PubMed Link: 28472130

Variant Present in the following documents:

• pone.0176516.s002.xlsx, sheet 1

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