International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

Chen, B (author)

Whatley, S (author)

Badminton, M (author)

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Aarsand, AK (author)

Anderson, KE (author)

Bissell, DM (author)

Bonkovsky, HL (author)

Cappellini, MD (author)

Floderus, Y (author)

Karolinska Institutet

Friesema, ECH (author)

Gouya, L (author)

Harper, P (author)

Karolinska Institutet

Kauppinen, R (author)

Loskove, Y (author)

Martasek, P (author)

Phillips, JD (author)

Puy, H (author)

Sandberg, S (author)

Schmitt, C (author)

To-Figueras, J (author)

Weiss, Y (author)

Yasuda, M (author)

Deybach, JC (author)

Desnick, RJ (author)

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 (creator_code:org_t)

Elsevier BV, 2019

2019

English.

In: Genetics in medicine : official journal of the American College of Medical Genetics. - : Elsevier BV. - 1530-0366. ; 21:11, s. 2605-2613

Related links:

https://europepmc.or...

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https://doi.org/10.1...

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• Journal article (peer-reviewed)